Search filters

List of works by Christine Van Broeckhoven

-Synuclein gene duplications in sporadic Parkinson disease

article

18F-FDG PET, the early phases and the delivery rate of 18F-AV45 PET as proxies of cerebral blood flow in Alzheimer's disease: Validation against 15O-H2O PET

scientific article published on 09 August 2019

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread ⬇️

scientific article published on July 1, 1991

5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait

scientific article published on 01 June 2000

71st ENMC International Workshop, 6th workshop of the European Charcot-Marie-Tooth disease consortium: hereditary recurrent focal neuropathies, 24-25 September 1999, Soestduinen, the Netherlands

scientific article

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.

scientific article published on 15 June 2015

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

scientific article published on 22 February 2006

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

scientific article

A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E

article by Wim Van Hul et al published March 1993 in Genomics

A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

scientific article published on 01 June 1993

A beta A4 amyloid precursor protein gene and Alzheimer's disease

scientific article published on April 1996

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A chromosome 18 genetic linkage study in three large Belgian pedigrees with bipolar disorder

scientific article published on 01 May 1997

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients

scientific article published on 01 January 1996

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy ⬇️

scientific article (publication date: 23 September 2003)

A high frequency EcoRI RFLP detected at the D21S13 locus

scientific article published in March 1990

A highly polymorphic locus is detected by probe CARLP II6.3 [D5S88]

scientific article published on August 1988

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

scientific article

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A new (CA)nrapeat polymorphism at the D21S13E locus ⬇️

scientific article published on September 25, 1991

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

scientific article published on 01 August 2001

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

scientific article published on 01 May 2001

A novel Alzheimer disease locus located near the gene encoding tau protein.

scientific article

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

scientific article published in June 2018

A novel GABRG2 mutation associated with febrile seizures

scientific article published on 01 August 2006

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

scientific article

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

scientific article

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

scientific article published in April 2006

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

scientific article

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype

scientific article published on 01 October 1999

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

A polymorphic locus [D1S88] is detected by probe LA01.41 on chromosome 1p.

scientific article published on February 1989

A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.

scientific article published on June 1989

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.

scientific article published in October 1994

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

scientific article

A rare MspI RFLP of the DMD probe p20 (DXS269)

scientific article published on April 1, 1992

A second family with autosomal dominant burning feet syndrome

scientific article published on 01 September 1999

A study of the SORL1 gene in Alzheimer's disease and cognitive function

scientific article published in January 2009

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

scientific article published on 10 September 2015

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

scientific article published on August 1995

ALS Genes in the Genomic Era and their Implications for FTD.

scientific article published on 28 March 2018

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

scientific article

APOE and Lipid Level Synergy Effects on Declarative Memory Functioning in Adulthood

APOE and the risk of PD with or without dementia in a population-based study

article

APOE epsilon4 and Alzheimer's disease: positive association in a Colombian clinical series and review of the Latin-American studies

scientific article

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease

scientific article published in March 1994

APOE genotyping in differential diagnosis of Alzheimer's disease

scientific article published in The Lancet

APOE ε4 is associated with longer telomeres, and longer telomeres among ε4 carriers predicts worse episodic memory

scientific article

APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.

scientific article

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

scientific article

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

scientific article published on August 1999

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers

scientific article published on 01 June 1989

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy

scientific article published on 01 December 1988

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

scientific article published on 01 January 1998

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family ⬇️

scientific article published on 08 October 2003

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium

scientific article published on January 1997

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

scientific article published on 20 August 2020

Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder, schizophrenia, and ataxia

scientific article published on 01 July 2000

Alpha-synuclein repeat variants and survival in Parkinson's disease

scientific article

Altered deactivation in individuals with genetic risk for Alzheimer's disease

scientific article published on 14 February 2008

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family

scientific article published in October 2007

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

scientific article published on September 2006

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites

scientific article published on 15 March 2011

Alzheimer's disease associated presenilin 1 interacts with HC5 and ZETA, subunits of the catalytic 20S proteasome

scientific article published on October 1999

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression

scientific article

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

scientific article published in Science

Amyloid pathology influences aβ1-42 cerebrospinal fluid levels in dementia with lewy bodies

scientific article published in January 2013

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease

scientific article published in April 1991

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation

scientific article

Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease ⬇️

scientific article published on November 2, 2001

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease

scientific article published on May 1998

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

scientific article published on 11 September 2020

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins

scientific article published on 01 October 1998

An informative MspI polymorphism detected at the D21S16 locus

scientific article published on 01 June 1990

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease

scientific article published on 27 March 2018

Analysis of the tyrosine hydroxylase and dopamine D4 receptor genes in a Croatian sample of bipolar I and unipolar patients

scientific article published on 01 April 1997

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families

scientific article published on 01 February 1998

Apolipoprotein E and carotid artery atherosclerosis: the Rotterdam study

scientific article published on September 2001

Apolipoprotein E and longevity: the Rotterdam Study

scientific article published in September 2001

Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation

scientific article published in March 1997

Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease

scientific article published on March 1995

Apolipoprotein E genotype and concomitant clinical features in early-onset Alzheimer's disease

scientific article published in June 1996

Apolipoprotein E genotype and progression of Alzheimer's disease: the Rotterdam Study

scientific article published in April 1999

Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

article

Apolipoprotein E genotype, atherosclerosis, and cognitive decline: the Rotterdam Study

scientific article published in January 1998

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

scientific article published on 01 May 1994

Arginine vasopressin receptor gene-based single-nucleotide polymorphism analysis in attention deficit hyperactivity disorder

scientific article published in April 2009

Assay of transfection rate in insect cells on a single cell level

scientific article published on 01 January 1998

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

scientific article

Association analysis of the 5-HT2C receptor and 5-HT transporter genes in bipolar disorder

scientific article published in September 1997

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population

scientific article published in October 2006

Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease

scientific article

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and F-FDG-PET imaging

scientific article published on 13 March 2019

Association study between bipolar disorder and candidate genes involved in dopamine-serotonin metabolism and GABAergic neurotransmission: a preliminary report

scientific article published on 01 January 1996

Association study of cholesterol-related genes in Alzheimer's disease

scientific article published on 27 March 2007

Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population

scientific article

Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts

scientific article published on 27 October 2011

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

scientific article

Atherosclerosis, apolipoprotein E, and prevalence of dementia and Alzheimer's disease in the Rotterdam Study

scientific article published in The Lancet

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autosomal dominant burning feet syndrome

scientific article

Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.

scientific article published on June 2004

Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation

scientific article published in February 2000

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

scientific article published in April 2010

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

scientific article published on 17 October 2013

Binding partners of Alzheimer's disease proteins: are they physiologically relevant?

scientific article

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

scientific article published on 16 January 2012

Brain-specific tryptophan hydroxylase, TPH2, and 5-HTTLPR are associated with frontal lobe symptoms in Alzheimer's disease

scientific article published in January 2013

C-terminal neurogranin is increased in cerebrospinal fluid but unchanged in plasma in Alzheimer's disease

scientific article published on 16 June 2015

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

scientific article published on 24 January 2013

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

scientific article

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

scientific article published in October 2001

CAG repeat expansions in bipolar and unipolar disorders.

scientific article published in March 1997

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

scientific article published on 22 October 2007

Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

scientific article published on 25 June 2012

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

scientific article

Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels

scientific article

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

scientific article published on 30 December 2015

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family

scientific article published in March 2006

Charcot-Marie-Tooth disease and related peripheral neuropathies

scientific article

Charcot-Marie-Tooth disease: an intermediate form

scientific article published on 01 August 1998

Cholesterol and triglycerides moderate the effect of apolipoprotein E on memory functioning in older adults

scientific article published on March 2007

Chromosome 18 workshop ⬇️

scientific article published on 01 January 1998

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

scientific article published on 13 February 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

scientific article published on 15 December 2015

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

scientific article published on August 2009

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

article by L E Warner et al published September 1996 in Neuron

Clinical variability and onset age modifiers in an extended Belgian GRN founder family

scientific article

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

scientific article published on 3 August 2015

Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21.

scientific article published on July 1994

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

scientific article published in The Journal of the American Medical Association

Comment - Genes and temperament, a shortcut for unravelling the genetics of psychopathology?

scientific article published on 01 December 1998

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

scientific article published on 25 October 2017

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

scientific article published on 12 March 2014

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia

scientific article published in February 2009

Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies

scientific article published on 01 January 1996

Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes

scientific article published on 10 April 2013

Comprehensive Genetic and Mutation Analysis of Familial Dementia with Lewy Bodies Linked to 2q35-q36

scientific article published on 01 January 2010

Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24

scientific article published on 01 September 1999

Contribution of TARDBP to Alzheimer's disease genetic etiology

scientific article

Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

scientific article

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease

scientific article published on 12 September 2020

Corrigendum to "Genome-wide association interaction analysis for Alzheimer's disease." [Neurobiol. Aging 35 (2014) 2436-2443].

scientific article

Corticotropin-releasing factor-binding protein, stress and major depression

scientific article

Current Insights into Molecular Mechanisms of Alzheimer Disease and Their Implications for Therapeutic Approaches

scientific article

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

scientific article published on 07 June 2013

Current status on Alzheimer disease molecular genetics: from past, to present, to future

scientific article

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

scientific article published on 26 November 2011

DNA fingerprints revealing common and divergent human DNA methylation patterns

scientific article

DNMBP is genetically associated with Alzheimer dementia in the Belgian population

scientific article

Data Mining: Applying the AD&FTD Mutation Database to Progranulin

scientific article published on 01 January 2018

De novo KCNQ2 mutations in patients with benign neonatal seizures

scientific article

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

scientific article published on June 2003

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

scientific article

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

scientific article published on 01 June 1994

Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs

scientific article

Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls

scientific article

Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric

scientific article (publication date: August 2002)

Detection of tandem duplications and implications for linkage analysis.

scientific article published on June 1994

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

scientific article

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

scientific article published in April 1999

Diagnostic Accuracy of Cerebrospinal Fluid Amyloid-β Isoforms for Early and Differential Dementia Diagnosis

scientific article published in January 2015

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

scientific article published on 20 March 2018

Diffusion Kurtosis Imaging: A Possible MRI Biomarker for AD Diagnosis?

scientific article published on 22 September 2015

Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease.

scientific article published on 11 March 2013

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

scientific article (publication date: August 2003)

Dinucleotide repeat polymorphism at the D21S145 locus ⬇️

scientific article published on March 11, 1992

Dinucleotide repeat polymorphism at the D21S16 [correction of D1S16] locus ⬇️

scientific article published on March 11, 1992

Dinucleotide repeat polymorphism at the D21S258 locus

scientific article published on September 1, 1992

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

scientific article

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

scientific article

Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics

scientific article published on 01 September 1999

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

scientific article published in March 2013

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia

scientific article published in February 2006

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

scientific article published on 12 February 2016

Duchenne muscular dystrophy immunohistochemistry of foetal muscles

scientific article published on 01 January 1993

Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype

scientific article

EEG Dominant Frequency Peak Differentiates Between Alzheimer's Disease and Frontotemporal Lobar Degeneration

scientific article

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

scientific article published on February 2011

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

scientific article

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

scientific article published on 09 March 2010

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

scientific article

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

scientific article published on 12 May 2009

Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study

scientific article

Endocytic disturbances distinguish among subtypes of Alzheimer's disease and related disorders

scientific article published in November 2001

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

article

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

scientific article published on 01 January 1998

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

scientific article published on 01 January 1996

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group ⬇️

scientific article published on January 1, 1992

Estrogen use and early onset Alzheimer's disease: a population-based study

scientific article

European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder

scientific article published on 01 April 2002

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

scientific article

Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype

scientific article published on August 1999

Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction

scientific article published on July 2000

Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers

scientific article published on 01 January 1989

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

scientific article published on 01 November 2001

Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder

scientific article published in July 2004

Expanded trinucleotide CAG repeats in families with bipolar affective disorder

scientific article published on 01 December 1997

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

scientific article published on 9 January 2013

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

scientific article

Extra-pair paternity results from female preference for high-quality males in the blue tit

scientific article published in Nature

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

scientific article

Fabry disease in a patient with Turner syndrome

scientific article published on 5 April 2009

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

scientific article published on 01 May 2000

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

scientific article published on 6 May 2004

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

scientific article published in April 2017

Fatigue before and after mild traumatic brain injury: pre-post-injury comparisons in relation to Apolipoprotein E.

scientific article published in September 2007

Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion

scientific article published on October 1998

Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association

scientific article published in January 2010

Fractal analysis of amyloid plaques in Alzheimer's disease patients and mouse models

scientific article

Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies

scientific article published in January 2006

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

scientific article published on January 2007

Frontotemporal lobar degeneration: current concepts in the light of recent advances

scientific article published on January 2007

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults

scientific article published on December 2014

Functional Changes in the Language Network in Response to Increased Amyloid β Deposition in Cognitively Intact Older Adults

scientific article published on 25 May 2016

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

scientific article published on 28 September 2014

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

scientific article published on 01 June 1997

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

scientific article

GFRA2 in GRN-related frontotemporal lobar degeneration

scientific article published on 30 April 2018

GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population

scientific article published on 24 March 2009

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression

scientific article published on 01 March 2002

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Genes and loci involved in febrile seizures and related epilepsy syndromes

scientific article

Genes for Alzheimer Dementia

scientific article

Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia

scientific article published in March 2017

Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration ⬇️

scientific article published on July 1, 1998

Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

scientific article published on 29 October 2015

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

scientific article

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.

scientific article published on August 1995

Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case???control study

article

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

scientific article published on 21 July 2012

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

scientific article published on 01 October 1999

Genetic contribution of FUS to frontotemporal lobar degeneration

scientific article published in February 2010

Genetic coupling study using DNA markers in the familial form of Alzheimer's disease

scientific article published in May 1989

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

scientific article

Genetic findings in degenerative dementia

scientific article published in May 1989

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) ⬇️

scientific article published on March 1, 1998

Genetic insights in Alzheimer's disease

scientific article published on January 2013

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

scientific article published in September 1990

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

scientific article published on 06 May 2020

Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder

scientific article published on 01 May 1999

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25

scientific article published on 01 December 1999

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

scientific article published on 24 August 2006

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

scientific article published on 09 May 2018

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease

scientific article published in December 2004

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

scientific article

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease

scientific article published in June 2008

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

scientific article

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

scientific article published on 02 September 2020

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

scientific article published on 16 December 2007

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

scientific journal article

Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's disease.

scientific article published on January 2006

Genetics of early-onset Alzheimer dementia

scientific article published on 16 June 2003

Genetics of personality: are we making progress? ⬇️

scientific article (publication date: October 2003)

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

scientific article

Genome-wide association interaction analysis for Alzheimer's disease

scientific article

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

scientific article (publication date: October 2009)

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

scientific article published on 22 November 2020

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

scientific article published on 20 March 2012

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

scientific article published on 05 November 2005

Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population

scientific article

Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration

scientific article published on 01 November 1999

Genotype–phenotype links in frontotemporal lobar degeneration

scientific article published on 01 June 2018

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression.

scientific article

Gly341Arg mutation indicating malignant hyperthermia susceptibility:

scientific article published on 01 January 1998

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

scientific article published on 01 December 2008

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

scientific article published on 13 September 2012

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

scientific article published on 01 October 2001

Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration

scientific article

Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

scientific article

Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis ⬇️

scientific article published on 01 January 1998

Hereditary neuralgic amyotrophy

scientific article

Hereditary neuralgic amyotrophy: mutation analysis of candidate genes

scientific article published on 01 September 1999

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

scientific article

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

article

High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.

scientific article published on 01 July 1997

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

scientific article

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

scientific article

IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

scientific article published on 25 June 2020

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

scientific journal article

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

scientific article

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

scientific article published in May 2010

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

scientific article published on 01 March 1994

Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms

scientific article published in January 1998

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

scientific article

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome

scientific article published in October 1991

Immunoreactivity of presenilin-1 and tau in Alzheimer's disease brain

scientific article

In vitro studies of Flemish, Dutch, and wild-type beta-amyloid provide evidence for two-staged neurotoxicity

scientific article published in November 2002

Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures

scientific article published on 24 September 2010

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

scientific article

Increased risk of dementia following mild head injury for carriers but not for non-carriers of the APOE epsilon4 allele

scientific article

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy

scientific article

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype

scientific article published in November 2001

International view on genetic frontotemporal dementia

scientific article published on 03 December 2019

Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease.

scientific article published on 16 November 2006

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

scientific article published on 21 December 2016

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

scientific article published on 10 November 2015

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

scientific article published on 9 October 2013

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

scientific article published on October 2008

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

scientific article

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

scientific article published on 01 September 1999

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

scientific article published in February 2011

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis

scientific article published on 01 January 1998

Lack of association between GABRA3 and unipolar affective disorder: a multicentre study

scientific article published in September 2001

Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study

scientific article published in October 2003

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study

scientific article published in August 2006

Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study

scientific article

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded

scientific article published on 01 December 1994

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree

scientific article published on May 1, 1992

Linkage analysis of the Duffy blood group marker with several chromosome 1 genes in an extended pedigree with Charcot-Marie-Tooth disease

scientific article

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

scientific article

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

scientific article

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

scientific article published on 01 May 1996

Linkage of mood disorders with D2, D3 and TH genes: a multicenter study

article

Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome

scientific article

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

scientific article

Location of the hidden break in large subunit ribosomal RNA of Artemia salina

scientific article published on 01 December 1984

Locus-specific mutation databases for neurodegenerative brain diseases

scientific article

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

scientific article

Longitudinal stability of cerebrospinal fluid biomarker levels: fulfilled requirement for pharmacodynamic markers in Alzheimer's disease

scientific article published in January 2013

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

scientific article

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.

scientific article

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

scientific article

Loss of progranulin function in frontotemporal lobar degeneration

scientific article published on 06 March 2008

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

scientific article published on 12 March 2008

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75year old female

scientific article published on 13 December 2017

Lymphoblast-derived integration-free iPS cell line from a 65-year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

scientific article published on 28 December 2015

Lymphoblast-derived integration-free iPS cell line from a 69-year-old male

scientific article published on December 2015

Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation

scientific article published on 20 October 2016

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

scientific article

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

scientific article

Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1.

scientific article published on 19 October 2016

MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study

scholarly article by Mara Ten Kate et al published 27 September 2018 in Alzheimers Research & Therapy

Major affective disorders and schizophrenia: a common molecular signature?

scientific article published on September 2006

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

article

Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease

scientific article published on 01 October 1996

Manic-depressive illness and linkage reanalysis in the Xq27-Xq28 region of chromosome X

scientific article published on 01 January 1995

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

scientific article published on December 1, 1992

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22 ⬇️

scientific article published on April 1, 1991

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

scientific article published in July 2006

Mechanisms of granulin deficiency: lessons from cellular and animal models

scientific article

Messenger RNA electroporation of human monocytes, followed by rapid in vitro differentiation, leads to highly stimulatory antigen-loaded mature dendritic cells

scientific article published on August 2002

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Metal Body Armour: Biomimetic Engineering of Lattice Structures †

Microglial upregulation of progranulin as a marker of motor neuron degeneration

scientific article published in December 2010

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

scientific article published on 7 September 2017

Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding

scientific article published on 01 July 1995

Molecular biological characterization of an azole-resistant Candida glabrata isolate ⬇️

scientific article published on October 1, 1997

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results

scientific article

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

scientific article published in February 1998

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

scientific article published on 01 January 1996

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

scientific article

Molecular genetics of Alzheimer's disease

scientific article published on 01 December 1998

Molecular genetics of Alzheimer's disease: an update

scientific article published on January 2008

Molecular genetics of Alzheimer's disease: what have we learned?

scientific article

Molecular genetics of early-onset Alzheimer's disease revisited

scientific article

Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology

scientific article published on June 2008

Molecular pathways of frontotemporal lobar degeneration

scientific article published on January 2010

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

scientific article published on 01 January 1993

Mortality from hereditary cerebral haemorrhage with amyloidosis--Dutch type. The impact of sex, parental transmission and year of birth

scientific article published in December 1997

Motor-neuron disease: Rogue gene in the family

scientific article published in March 2009

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency

scientific article published on 01 May 1996

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export

scientific article published on 14 March 2020

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

scientific article published on 16 September 2016

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

scientific article

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).

scientific article published in May 2001

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

scientific article published on 01 January 1997

Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24

scientific article published on 01 February 1997

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

scientific article

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

scientific article

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

scientific article

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

article

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

scientific article

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

scientific article

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

scientific article (publication date: 24 December 2002)

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

scientific article

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

scientific article published on 7 July 2016

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

scientific article

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

scientific article published in April 2007

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

scientific article

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

scientific article

NanoPack: visualizing and processing long read sequencing data

scholarly article published 21 December 2017

NanoPack: visualizing and processing long-read sequencing data

scientific article published on 01 August 2018

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

scientific article published on 14 November 2019

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

scientific article published in January 2009

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

New insights into the genetic etiology of Alzheimer's disease and related dementias

scientific article published in April 2022

Newest Methods for Detecting Structural Variations

scientific article published on 19 March 2019

No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis

scientific article

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population

scientific article published in October 2006

No association between CALHM1 and risk for Alzheimer dementia in a Belgian population

scientific article

No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease

scientific article published on 22 June 2007

No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers

scientific article published on 15 August 2020

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

scientific article published on 14 May 2009

No association of the trace amine-associated receptor 6 with bipolar disorder in a northern Swedish population

scientific article published on 01 February 2006

No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder: evidence from Belgian first and replication patient-control studies.

scientific article

No influence of presenilin1 I143T and G384A mutations on endogenous tau phosphorylation in human and mouse neuroblastoma cells

scientific article published in July 1999

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Non-motor symptoms in a Flanders-Belgian population of 215 Parkinson's disease patients as assessed by the Non-Motor Symptoms Questionnaire ⬇️

scientific article published on July 23, 2012

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

scientific article

Non-replication of the brain-derived neurotrophic factor (BDNF) association in bipolar affective disorder: a Belgian patient-control study

scientific article

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

scientific article

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

scientific article published on 01 April 1995

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family

scientific article published in November 2003

Novel Alzheimer's disease risk genes: exhaustive investigation is paramount

scientific article published on 12 July 2019

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

scientific article published on 01 January 1999

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

scientific article

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs

scientific article published in October 2009

Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

scientific article published in September 2004

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

scientific article

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

scientific article

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

scientific article

Octapeptide repeat insertions in the prion protein gene and early onset dementia

scientific article published on August 2004

Of giant axons and curly hair

scientific article published on 01 November 2000

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

scientific article published on 01 December 1993

PCR detection of the frequent TaqI RFLP at locus D21S13E ⬇️

scientific article published on May 11, 1991

PCR detection of two RFLP's at the D21S13 locus

scientific article published on June 1990

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

scientific article published on 01 March 1998

PMP22 Thr118Met is not a clinically relevant CMT1 marker

scientific article published on 01 September 2000

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

scientific article published in October 2004

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease

scientific article

Parametric and nonparametric genome scan analyses for human handedness

scientific article published on 01 October 2003

Parietal cortex activation predicts memory decline in apolipoprotein E-epsilon4 carriers

scientific article published in November 2006

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes

scientific article published on 26 July 2011

Pathogenesis of polyglutamine disorders: aggregation revisited

scientific article published on October 2003

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

scientific article published in August 2001

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders ⬇️

scientific article published on July 29, 2013

Patient homozygous for a recessive POLG mutation presents with features of MERRF

scientific article published on 01 December 2003

Patient-control association study of substance P-related genes in unipolar and bipolar affective disorders

scientific article published on 01 June 2005

Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

scientific article published in 2022

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

scientific article published on 14 August 2019

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

scientific article published on 01 April 1994

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

scientific article published in February 2008

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

scientific article published on April 2016

Phenotypic variation of autosomal-dominant corticobasal degeneration

scientific article published on 18 January 2012

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

scientific article

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation

scientific article published on 4 December 2013

Polymorphism of brain derived neurotrophic factor influences β amyloid load in cognitively intact apolipoprotein E ε4 carriers

scientific article published on 11 April 2013

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

scientific article

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease

scientific article published in May 2004

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Positive association between the GABRA5 gene and unipolar recurrent major depression

scientific article published on 01 January 1997

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders

scientific article published in March 2002

Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders

scholarly article by Isabelle Massat et al published 14 February 2002 in American Journal of Medical Genetics Part A

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population

scientific article

Potent amyloidogenicity and pathogenicity of Aβ43.

scientific article published on 3 July 2011

Power of selective genotyping in genetic association analyses of quantitative traits

scientific article published on 01 March 2000

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques

scientific article published on 01 July 1995

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation

scientific article published on 20 November 2018

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation

scientific article published in September 1998

Presenilin mutations in Alzheimer's disease

scientific article

Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type

scientific article published on 01 July 1997

Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin

scientific article published on 28 July 2003

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).

scientific article published in October 2000

Primary and secondary structure of the 18 S ribosomal RNA of the insect species Tenebrio molitor ⬇️

scientific article published on May 9, 1988

Primary and secondary structure of the 18S ribosomal RNA of the bird spider Eurypelma californica and evolutionary relationships among eukaryotic phyla

scientific article published on 01 October 1988

Processing of presenilin 1 in brains of patients with Alzheimer's disease and controls

scientific article published in May 1997

Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models

scientific article

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

scientific article published on December 2006

Progranulin null mutations in both sporadic and familial frontotemporal dementia

scientific article published on 01 September 2007

Progranulin variability has no major role in Parkinson disease genetic etiology

scientific article

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

scientific article

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

scientific article

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

scientific article

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

scientific article

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

scientific article

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

Proteasome degrades soluble expanded polyglutamine completely and efficiently

scientific article

Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations

scientific article

Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations

scientific article published on 01 October 1999

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees

scientific article published on 01 January 1996

Pure progressive amnesia as variant of genetically proven Alzheimer disease.

scientific article published in February 2009

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

scientific article

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

scientific article published on 17 February 2018

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

scientific article

Reduced brain volumes in mice expressing APP-Austrian mutation but not in mice expressing APP-Swedish-Austrian mutations

scientific article published in October 2008

Reduced functional brain activity response in cognitively intact apolipoprotein E epsilon4 carriers

scientific article published on 14 March 2006

Reduced hippocampal volume in non-demented carriers of the apolipoprotein E epsilon4: relation to chronological age and recognition memory

scientific article published on 6 January 2006

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

scientific article published on 16 July 2015

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

scientific article published on 29 December 2015

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25

scientific article published on 01 May 1997

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

scientific article published on 01 February 1997

Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.

scientific article

Relationship between C9orf72 repeat size and clinical phenotype

scientific article published on 17 March 2017

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

scientific article published in July 2009

Reply

scientific article published on 01 July 2010

Reply: ATP10B and the risk for Parkinson's disease

scientific article published on 15 June 2020

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism

scientific article published on 05 September 2020

Report of the 8th annual symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999.

scientific article published in January 1999

Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.

scientific article published on February 2011

Response to Zhang et al (2005): loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major Depression. Neuron 45, 11-16.

scientific article

Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study

scientific article published in July 1998

Risk of left ventricular dysfunction in patients with probable Alzheimer's disease with APOE*4 allele.

scientific article

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

scientific article published on 01 November 2019

Role of glucocorticoid receptor gene in vulnerability for major depression: commentary on Neigh and Nemeroff

scientific article published on 27 October 2006

Role of progranulin as a biomarker for Alzheimer's disease

scientific article published on February 2010

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

scientific article published on 22 July 2011

SNPbox: a modular software package for large-scale primer design

scientific article

SNPbox: web-based high-throughput primer design from gene to genome

scientific article published on July 2004

SNPbox: web-based high-throughput primer design with an eye for repetitive sequences

scientific article published on January 2007

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population

scientific article

SSHSuite: an integrated software package for analysis of large-scale suppression subtractive hybridization data

scientific article

Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease

scientific article published in August 1991

Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome

scientific article published on August 1989

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

scientific article

Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study

scientific article

Serum apolipoprotein E level is not increased in Alzheimer's disease: the Rotterdam study

scientific article

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

scientific article published in May 2009

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in bipolar disorder

scientific article published in October 2007

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

scientific article published on 28 June 2007

Slowing of saccadic eye movements in sporadic Creutzfeldt-Jakob disease

scientific article published in March 2013

Smoking and risk of dementia and Alzheimer's disease in a population-based cohort study: the Rotterdam Study

scientific article published in June 1998

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family

scientific article

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

scientific article published on 26 October 2007

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

scientific article published on January 2004

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

scientific article published on 15 October 2019

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

scientific article published on 11 June 2019

Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms

scientific article published on 01 January 1990

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques

scientific article published on June 1991

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

scientific article published in October 2001

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies

scientific article

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila

scientific article published on 17 January 2013

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

scientific article

TMEM106B a novel risk factor for frontotemporal lobar degeneration

scientific article published on 26 May 2011

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

scientific article published on 19 January 2014

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

scientific article

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

scientific article published in November 2003

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

scientific article

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval

scientific article published in January 2002

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

scientific article

The -491 A/T polymorphism in the regulatory region of the apolipoprotein E gene and early-onset Alzheimer's disease.

scientific article published in December 1998

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

scientific article

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

scientific article

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

scientific article

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

scientific article published on September 2017

The Cerebrospinal Fluid Neurogranin/BACE1 Ratio is a Potential Correlate of Cognitive Decline in Alzheimer's Disease

scientific article published on 06 July 2016

The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

scientific article

The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics.

scientific article published on 6 July 2018

The Genetics of C9orf72 Expansions

scientific article published on 27 January 2017

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

scientific article published in January 1999

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease

scientific article

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

scientific article published in February 1999

The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years

scientific article published on 6 October 2005

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

scientific article published on 06 August 2019

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis

scientific article published on 01 September 2000

The apolipoprotein E epsilon 2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival.

scientific article published in May 1995

The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations

scientific article published in September 1994

The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden

scientific article (publication date: November 2003)

The cystatin C polymorphism is not associated with early onset Alzheimer's disease

scientific article published in July 2001

The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: a meta-analysis

scientific article

The effect of APOE on dementia is not through atherosclerosis: the Rotterdam Study

scientific article published on 01 October 1999

The future of genetic research on neurodegeneration

scientific article

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

scientific article

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

article

The genetic landscape of Alzheimer disease: clinical implications and perspectives

scientific article

The genetics and neuropathology of frontotemporal lobar degeneration

scientific article published in September 2012

The genetics of dementia with Lewy bodies: what are we missing?

scientific article published on September 2012

The genotype 2/2 of the presenilin-1 polymorphism is decreased in Spanish early-onset Alzheimer's disease

scientific article published on 01 May 1997

The impact of APOE on myocardial infarction, stroke, and dementia: the Rotterdam Study

scientific article published in April 2004

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

scientific article

The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island

scientific article published on 01 May 1990

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

scientific article published on June 1, 1992

The presenilin genes: a new gene family involved in Alzheimer disease pathology

scientific article

The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects

scientific article published on 18 January 2010

The reactions of mercurated pyrimidine nucleotides with thiols and with hydrogen sulfide ⬇️

scientific article published on June 1, 1978

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics

scientific article published on 22 March 2019

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

scientific article published on August 2011

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

scientific article

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

scientific article

Trinucleotide repeat expansions: do they contribute to bipolar disorder? ⬇️

scientific article published on November 1, 2001

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

scientific article published on 01 September 1996

Two polymorphic loci are detected simultaneously by probe CARLP II8.2 [D10S21] on chromosome 10.

scientific article published on March 1988

Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21.

scientific article published in January 1992

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

scientific article published in August 2003

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease

article

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

scientific article published on 01 November 2000

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

scientific article published on 01 October 2006

WT1 mutation in malignant mesothelioma and WT1 immunoreactivity in relation to p53 and growth factor receptor expression, cell-type transition, and prognosis

scientific article published on January 1997

X-linkage in bipolar illness

scientific article published on 01 April 1991

YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.

scientific article

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

scientific article published in October 2004

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

scientific article published on 5 February 2013

novoSNP, a novel computational tool for sequence variation discovery

scientific article published on March 2005

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers

scientific article

Paulina is supported by:

About Paulina

Help