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List of works by Rosa Rademakers

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 Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease

scientific article

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

scientific article

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 familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

scientific article

A new subtype of frontotemporal lobar degeneration with FUS pathology

scientific article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases

scientific article

A novel de novo pathogenic mutation in the CACNA1A gene

scientific article

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

scientific article

A novel tau mutation, p.K317N, causes globular glial tauopathy

scientific article published on 22 April 2015

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

scientific article

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family

scientific article

APOE ε2 is associated with increased tau pathology in primary tauopathy

scientific article published in Nature Communications

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

scientific article

Advances in understanding the molecular basis of frontotemporal dementia ⬇️

scientific article published on June 26, 2012

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

scientific article

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations

scientific article

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

scientific article

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

scientific article

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders

scientific article published on 14 September 2013

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

scientific article published on 30 January 2012

Analysis of COQ2 gene in multiple system atrophy

scientific article

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

scientific article published on 18 October 2012

Angiogenin variation and Parkinson disease

scientific article published in May 2012

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers

scientific article published on 04 September 2013

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

scientific article published on 16 October 2013

Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2).

scientific article

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

scientific article

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

scientific article published on 01 January 2020

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

scientific article published on 05 September 2013

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

scientific article published on 01 June 2019

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

scientific article published on 2 May 2014

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach

scientific article published on September 2012

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

scientific article

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers

scientific article published on 07 June 2019

Brain calcifications and PCDH12 variants

scientific article published on 26 July 2017

Brain volumetric deficits in MAPT mutation carriers: a multisite study

scientific article published on 28 November 2020

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

scientific article published on 19 June 2015

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

scientific article

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

scientific article published on 21 March 2016

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic ⬇️

scientific article published on May 16, 2012

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

scientific article published on 30 December 2015

C9orf72 repeat expansions in patients with ALS and FTD ⬇️

scientific article published on March 9, 2012

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI)

CSF1R mutation presenting as dementia with Lewy bodies

scientific article published on 01 February 2019

CSF1R mutations link POLD and HDLS as a single disease entity

scientific article published on 13 February 2013

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

scientific article published on 3 February 2016

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

scientific article

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

scientific article published on September 2012

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

scientific article

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

scientific article published in March 2006

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

scientific article

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

scientific article published on 4 October 2012

Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia

scientific article

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

scientific article published on 15 November 2011

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

scientific article published on 7 December 2017

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p ⬇️

scientific article published on January 7, 2012

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p ⬇️

scientific article published on February 17, 2012

Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration

scientific article published on 06 January 2020

Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene

scientific article published in September 2011

Clinical characterization of bvFTD due to FUS neuropathology ⬇️

scientific article published on November 7, 2011

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia

scientific article

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

scientific article

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis

scientific article

Cognitive impairment in progressive supranuclear palsy is associated with tau burden

scientific article published on 30 October 2017

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly

scientific article

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

scientific article

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

scientific article published on 21 August 2008

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Corticobasal degeneration: a pathologically distinct 4R tauopathy

scientific article published on 12 April 2011

Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia

scientific article published on 28 January 2013

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy

scientific article published on 30 August 2017

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

scientific article

Dementia Research-A Roadmap for the Next Decade

scientific article published on 12 December 2016

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Differential clinicopathologic and genetic features of late-onset amnestic dementias

scientific article published on 5 June 2014

Differentiating clinicopathologic and genetic aspects of hippocampal sclerosis in Alzheimer's disease from limbic predominant Alzheimer's disease and “pure” hippocampal sclerosis

scholarly article by Neill Graff-Radford et al published July 2012 in Alzheimer's and Dementia

Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia

scientific article published on 22 July 2015

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients.

scientific article published on 4 July 2018

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

scientific article

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

scientific article

Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration

scientific article published in November 2017

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

scientific article published on 20 July 2015

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy

scientific article published on 23 December 2016

Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia

scientific article published on 28 February 2015

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

scientific article published in February 2006

Early neuropsychological characteristics of progranulin mutation carriers

scientific article

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain

scientific article published on 23 May 2016

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times

scientific article published in January 2013

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

scientific article

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

scientific article

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

scientific article published on 08 October 2019

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

scientific article

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

scientific article published on 16 August 2016

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

scientific article

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients

scientific article published on 16 January 2008

Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates

scientific article

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers

scientific article published on 17 July 2019

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

scientific article

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study

scientific article published on 9 October 2006

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

scientific article

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

scientific article published on September 2012

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

scientific article

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

scientific article

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation

scientific article

Fulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome

scientific article

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

Gene expression study on peripheral blood identifies progranulin mutations

scientific article published on July 2008

Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories

scientific article

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

scientific article

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

scientific article

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

scientific article published on 01 January 2020

Genetics of FTLD: overview and what else we can expect from genetic studies

scientific article published on 24 March 2016

Genetics of early-onset Alzheimer dementia

scientific article published on 16 June 2003

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

scientific article published on 16 June 2015

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

scientific article

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers.

scientific article published on 17 February 2018

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity

scientific article published on November 2011

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

scientific article

Heterochromatin anomalies and double-stranded RNA accumulation underlie poly(PR) toxicity

article

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

article

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

scientific article

Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically

scientific article

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

scientific article published on December 2012

Human Genetics as a Tool to Identify Progranulin Regulators ⬇️

scientific article published on May 28, 2011

Identical twins with the C9orf72 repeat expansion are discordant for ALS

scientific article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

scientific article published on 20 March 2018

Identification of missing variants by combining multiple analytic pipelines

scientific article published on 16 April 2018

In vivo 18F-AV-1451 tau-PET signal in MAPT mutation carriers varies by expected tau isoforms

scientific article published on 9 February 2018

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

scientific article published on 15 May 2017

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture

scientific article published on 28 October 2016

Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration

scientific article published on 06 January 2020

Jump from pre-mutation to pathologic expansion in C9orf72.

scientific article published on 21 May 2015

LRRK2 variation and dementia with Lewy bodies

scientific article published on 29 July 2016

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

Lewy body disease is a contributor to logopenic progressive aphasia phenotype

scientific article published on 04 December 2020

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.

scientific article published in June 2019

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

scientific article

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

scholarly article by Mark T W Ebbert published in August 2018

Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation

scientific article published on 30 June 2020

Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect

scientific article

Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin-deficient mice

scientific article published on 05 August 2020

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.

scientific article published on 31 May 2018

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

scientific article

MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene

scientific article

Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis

scientific article published on 03 December 2020

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

scientific article published on 10 December 2012

Mitotic Defects Lead to Neuronal Aneuploidy and Apoptosis in Frontotemporal Lobar Degeneration Caused by MAPT Mutations

scientific article published on 27 December 2017

Motor neuron disease in 2012: Novel causal genes and disease modifiers

scientific article published on 15 January 2013

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

scientific article

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

scientific article

Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.

scientific article published on 28 April 2013

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

scientific article

Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain

scientific article published on 26 April 2016

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

scientific article

Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease ⬇️

scientific article published on October 1, 2013

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport

scientific article published on 3 November 2015

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

scientific article

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

scientific article published on February 2007

Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

scientific article published on 20 September 2011

Nonsense mutation in PRNP associated with clinical Alzheimer's disease

scientific article

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

scientific article published in November 2003

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

scientific article published on 11 December 2017

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

scientific article published on February 2014

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

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

scientific article

Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response

PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

scientific article published on 20 November 2014

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

scientific article

Pallidonigral TDP-43 pathology in Perry syndrome

scientific article published on 23 August 2008

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

scientific article published on 17 June 2013

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.

scientific article

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis ⬇️

scientific article published on November 12, 2010

Pathologic staging of white matter lesions in adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids

scientific article published in March 2015

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation ⬇️

scientific article published on May 21, 2011

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

scientific article published on 02 January 2019

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

scientific article published in October 2007

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

scientific article published on 21 January 2009

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

scientific article published on 6 April 2018

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

scientific article published in 2024

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

scientific article

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

scientific article published on 27 September 2016

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 02 May 2013

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

scientific article

Progranulin axis and recent developments in frontotemporal lobar degeneration ⬇️

scientific article published on January 23, 2012

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

article

Progranulin protein levels are differently regulated in plasma and CSF.

scientific article

Progranulin regulates neuronal outgrowth independent of Sortilin ⬇️

scientific article published on July 10, 2012

Progranulin-associated PiB-negative logopenic primary progressive aphasia

scientific article published on 22 January 2014

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

scientific article published on 07 August 2013

Progressive supranuclear palsy: pathology and genetics

scientific article published on January 2007

Prominent phenotypic variability associated with mutations in Progranulin

scientific article

Prosaposin is a regulator of progranulin levels and oligomerization

scientific article published on 30 June 2016

Psychometric evaluation of personality in a patient with FTDP-17

scientific article published on 01 April 2010

Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort

scientific article

Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort

scientific article published on 13 July 2020

Rapidly Progressive Dementia in a Chinese Patient due to C9ORF72 Mutation ⬇️

scientific article published on September 1, 2012

Rates of lobar atrophy in asymptomatic MAPT mutation carriers

scientific article published on 30 July 2019

Recent insights into the molecular genetics of dementia

scientific article

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

scientific article published on 29 October 2013

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease

scientific article published on 12 March 2014

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs

scientific article published on 11 January 2018

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

scientific article published on 16 June 2017

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Reply: LATE to the PART-y

scientific article published on 01 September 2019

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

scientific article published on 12 January 2022

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

scientific article

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

scientific article

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

scientific article published on 4 November 2012

Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

scientific article

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

scientific article published on May 2013

Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals

scientific article published on 6 September 2016

Sporadic corticobasal syndrome due to FTLD-TDP.

scientific article

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

scientific article published on 6 October 2016

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

scientific article

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

article

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight: Supplemental figures

article

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

scientific article (publication date: November 2009)

TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43

scientific article

TARDBP mutations in Parkinson's disease

scientific article

TDP-43 A315T mutation in familial motor neuron disease

scientific article published on April 2008

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article

TDP-43 frontotemporal lobar degeneration and autoimmune disease

scientific article published on 30 March 2013

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.

scientific article published on 8 January 2018

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

scientific article published in August 2017

TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections

scientific article published in December 2017

TMEM106B haplotypes have distinct gene expression patterns in aged brain.

scientific article

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

scientific article published on July 2013

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

scientific article

TREM2 Variants in Alzheimer's Disease ⬇️

scientific article published on November 14, 2012

TREM2 in CNS homeostasis and neurodegenerative disease

scientific article

TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

scientific article published on 21 June 2013

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

scientific article published on 14 July 2016

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency

scientific journal article

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

scientific article

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

scientific article published on 28 September 2012

Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers

The GGGGCC Repeat Expansion inC9ORF72in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome ⬇️

scientific article published on November 30, 2012

The TMEM106B locus and TDP-43 pathology in older persons without FTLD.

scientific article

The genetics of frontotemporal lobar degeneration

scientific article published on September 2007

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

scientific article published on 06 January 2020

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments

scientific article published on 06 September 2007

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

scientific article published in November 2006

The neuropsychology of normal aging and preclinical Alzheimer's disease

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