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List of works by Alexis Brice

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

scientific article

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

scientific article published on 28 September 2015

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

scientific article

A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ⬇️

scientific article published on April 15, 1998

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

scientific article

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

scientific article

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

scientific article

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

scientific article published on 11 August 2014

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia

scientific article (publication date: 15 September 1999)

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

scientific article

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

scientific article

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

scientific article

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

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 multidisciplinary study of patients with early-onset PD with and without parkin mutations

scientific article

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

scientific article published on 17 July 2009

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

scientific article

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

scientific article

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

scientific article

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

scientific article published on 6 March 2006

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

scientific article

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

scientific article published on 21 April 2017

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 ⬇️

scientific article published on December 1, 2001

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

scientific article

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

scientific article

ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease

scientific article

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

scientific article

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

scientific article

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

scientific article

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

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

scientific article published in January 2009

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

scientific article published on July 1996

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7) ⬇️

scientific article published on August 20, 2010

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

scientific article published on October 2013

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

scientific article

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

scientific article published on 10 November 2011

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Are cognitive changes the first symptoms of Huntington's disease? A study of gene carriers

scientific article

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Association between early-onset Parkinson's disease and mutations in the parkin gene

scientific article (publication date: 25 May 2000)

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

scientific article published on 30 August 2011

Association study of the GAB2 gene with the risk of developing Alzheimer's disease

scientific article published on 5 January 2008

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

scientific article

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

scientific article

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

scientific article

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

Autism, language delay and mental retardation in a patient with 7q11 duplication

scientific article

Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).

scientific article

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3 ⬇️

scientific article published on September 1, 1998

Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3 ⬇️

scientific article published on December 1, 1997

Autosomal dominant cerebellar ataxias

scientific article published on 05 May 2011

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

scientific article published on 14 June 2018

Autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article published on January 2012

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

scientific article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

scientific article

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

scientific article published on 24 January 2006

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

scientific article published on 19 January 2018

Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity

scientific article

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

scientific article

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

scientific article published in October 2001

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

scientific article

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

scientific article

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

scientific article

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Candidate gene studies in focal dystonia ⬇️

scientific article published on October 28, 2003

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

scientific article

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

scientific article

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

scientific article published on 19 January 2009

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

scientific article (publication date: December 2003)

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

scientific article

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

scientific article

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

scientific article

Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study

scientific article

Clinical and genetic abnormalities in patients with Friedreich's ataxia

scientific article

Clinical and genetic aspects of spinocerebellar degeneration

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

scientific article

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

scientific article (publication date: 3 July 2007)

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

scientific article

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

scientific article published in September 2006

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

scientific article published on January 2012

Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease

scientific article

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

scientific article

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

scientific article

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

scientific article

Combined vitamin B6-magnesium treatment in autism spectrum disorder.

scientific article

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

scientific article (publication date: May 2011)

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

scientific article published on 10 November 2017

Complex relationship between Parkin mutations and Parkinson disease

scientific article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

scientific article

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

scientific article published on 7 May 2014

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

scientific article published on April 2014

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene

scientific article published in May 2007

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

scientific article

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

scientific article published on 12 March 2012

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7

scientific article

Current data on the genetic of Parkinson disease

scientific article

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes

scientific article published in February 2014

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

scientific article

DYT1 mutation in French families with idiopathic torsion dystonia

scientific article

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

scientific article

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

Decreased choline acetyltransferase mRNA expression in the nucleus basalis of Meynert in Alzheimer disease: an in situ hybridization study ⬇️

scientific article published on October 15, 1992

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

scientific article published on 15 June 2016

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations

scientific article published on 26 May 2016

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

scientific article

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

article

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients

scientific article published on 8 December 2017

Diagnosis of "sporadic" Huntington's disease

scientific article published in March 1995

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

scientific article

Dopaminergic denervation severity depends on COMT Val158Met polymorphism in Parkinson's disease

scientific article

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group ⬇️

scientific article published on November 1, 1992

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

scientific article published on June 1, 2012

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

scientific article published on 09 June 2020

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

scientific article

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

scientific article published on 14 October 2005

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 against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

scientific article published on 20 November 2009

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

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

scientific article published on 10 November 2006

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation ⬇️

scientific article published on 01 February 1998

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

scientific article published on 11 July 2016

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

scientific article published on March 1998

FXTAS: new insights and the need for revised diagnostic criteria

scientific article published on 17 October 2012

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

scientific article

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

scientific article (publication date: May 2001)

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease

scientific article

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

scientific article

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

scientific article

From genes to proteins in mendelian Parkinson's disease: an overview

scientific article published on December 2009

Fronto-temporal lobar degeneration: neuropathology in 60 cases ⬇️

scientific article published on May 4, 2011

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

scientific article

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

scientific article published on November 2005

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

scientific article published on April 1, 2013

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Gender equality in Machado–Joseph disease

article published in 1995

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

scientific article

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

scientific article

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

scientific article published on August 2011

Genetic complexity and Parkinson's disease ⬇️

scientific article published on July 18, 1997

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

scientific article published on 11 April 2015

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 overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

scientific article

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

scientific article

Genetics of Parkinson's disease and biochemical studies of implicated gene products

scientific article

Genetics of Parkinson's disease: LRRK2 on the rise

scientific article

Genetics of inherited human epilepsies

scientific article

Genetics of movement disorders

scientific article published on August 1996

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

scientific article published on 17 November 2010

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease

scientific article (publication date: December 2004)

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

scientific article

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers

scientific article published in February 2016

Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy-like tauopathy

scientific article published in April 2002

Hereditary ataxias and paraparesias

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

scientific article

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

scientific article

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

scientific article published in May 2006

Hereditary spastic paraplegias: an update

scientific article

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

scientific article published on 7 September 2016

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders

scientific article

Heterozygous OPA1 mutations in Behr syndrome

scientific article

Homozygosity in Huntington's disease

scientific article published in February 1999

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

scientific article

How much phenotypic variation can be attributed to parkin genotype?

scientific article

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

scientific article published on 6 May 2003

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

scientific article

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

scientific article published on 8 March 2013

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

scientific article

Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis

article

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

scientific article

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

scientific article

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

scientific article published in April 2009

Inflammatory profile in LRRK2-associated prodromal and clinical PD

scientific article published on 24 May 2016

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.

scientific article published on 30 May 2018

Is DRPLA also linked to 14q?

scientific article

Is the MC1R variant p.R160W associated with Parkinson's?

scientific article published on 21 September 2015

Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?

scientific article published on November 2008

Is the saitohin gene involved in neurodegenerative diseases?

scientific article (publication date: December 2002)

Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R.

scientific article published in January 2013

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

scientific article

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

scientific article

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

scientific article published on 6 December 2013

LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort

scientific article

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients

scientific article

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans

scientific article published on March 2007

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

scientific article published in August 2005

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

scientific article published on February 2006

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

scientific article published on 14 October 2010

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

scientific article published on August 2015

Learning from genetic forms of neurodegeneration ⬇️

scientific article published on December 1, 2010

Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease

scholarly article

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

scientific article published on 28 July 2016

Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease

scientific article published on September 2010

Linkage disequilibrium at the SCA2 locus

scientific article

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

scientific article published in June 1997

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

scientific article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

Low cancer prevalence in polyglutamine expansion diseases

scientific article published on 15 February 2017

Low disease risk in relatives of north african lrrk2 Parkinson disease patients ⬇️

scientific article published on September 21, 2010

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

scientific article

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

scientific article

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

scientific article

Mental deficiency in three families with SPG4 spastic paraplegia

scientific article published on 24 October 2007

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

scientific article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

scientific article

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

scientific article

Mitochondrial dysfunctions in Parkinson's disease

scientific article published on 09 October 2013

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

scientific article published on 22 December 2016

Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease ⬇️

scientific article published on November 30, 2012

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

scientific article

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

scientific article published on February 1998

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

scientific article published in May 1997

Monogenic idiopathic epilepsies

scientific article published on April 2004

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

scientific article published on 25 March 2016

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

scientific article

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

scientific article published in December 1999

Mutation analysis of Parkinson's disease genes in a Russian data set

scientific article published on 09 July 2018

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

scientific article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

scientific article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

scientific article

Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia

scientific article published in March 2005

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in KCND3 cause spinocerebellar ataxia type 22.

scientific article

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

scientific article

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

scientific article published on 13 December 2007

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

scientific article

Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

scientific article

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease

scientific article

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France ⬇️

scientific article published on November 24, 2012

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

scientific article published on January 2011

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

scientific article

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

scientific article

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

scientific article published in April 2007

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

scientific article (publication date: October 2002)

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Neurodegeneration in Parkinson's disease: genetics enlightens physiopathology

scientific article published on January 2009

New autosomal recessive cerebellar ataxias with oculomotor apraxia

scientific article

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

scientific article published in November 2005

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism ⬇️

scientific article published on April 22, 2003

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 20 August 2015

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

scientific article published in June 2013

No evidence for association of familial Parkinson's disease with CAG repeat expansion ⬇️

scientific article published on 01 September 1995

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

Nuclear inclusions in spinocerebellar ataxia type 1.

scientific article

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

scientific article published on 14 February 2001

PARK11 is not linked with Parkinson's disease in European families

article

PARK6 is a common cause of familial parkinsonism

scientific article

PARKIN Inactivation Links Parkinson's Disease to Melanoma

scientific article published on 17 December 2015

PINK1 and FLNA mutations association: A role for atypical parkinsonism?

scientific article

PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins

scientific article

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

scientific article

Parkin deficiency delays motor decline and disease manifestation in a mouse model of synucleinopathy

scientific article

Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic mice

scientific article

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

scientific journal article

Parkin immunoreactivity in the brain of human and non-human primates: an immunohistochemical analysis in normal conditions and in Parkinsonian syndromes

scientific article

Parkin interacts with the proteasome subunit alpha4

scientific article

Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death

scientific article

Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10

scientific article

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

scientific article published in June 2003

Parkin occurs in a stable, non-covalent, approximately 110-kDa complex in brain

scientific journal article

Parkin protects dopaminergic neurons from excessive Wnt/beta-catenin signaling

scientific article

Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Parkinson's disease patients show reduced cortical-subcortical sensorimotor connectivity

scientific article published on November 9, 2012

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

scientific article

Parkinson's disease: from causes to mechanisms

scientific article

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

scientific article

Perspective on future role of biological markers in clinical therapy trials of Alzheimer's disease: a long-range point of view beyond 2020.

scientific article

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

scientific article published in February 2008

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

scientific article (publication date: April 2003)

Polygenic risk of Parkinson disease is correlated with disease age at onset

scientific article published on 13 March 2015

Polyglutamine expansions and neurodegenerative diseases

scientific article published on January 1, 1996

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

scientific article

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts

scientific article published on 16 June 2017

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia

scientific article published in August 2003

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

scientific article published on 01 August 2018

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

scientific article published on May 2013

Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function

scientific article published on 7 September 2005

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients

scientific article

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

scientific article published in February 2011

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

Recent advances in hereditary spastic paraplegia

scientific article

Recent advances in the genetics of spastic paraplegias

scientific article published on May 2008

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

scientific article published in June 1994

Recurrent polyradiculoneuropathy with the 17p11.2 deletion ⬇️

scientific article published on September 1, 1997

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

scientific article published on 19 July 2016

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

scientific article

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

scientific article published on 30 December 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

scientific article published on 7 May 2015

Reply: Updated frequency analysis of spinocerebellar ataxia in China

scientific article published on 12 February 2018

Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons

scientific article

Role of mendelian genes in "sporadic" Parkinson's disease

scientific article

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

scientific article published on 22 July 2011

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

scientific article

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

scientific article

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

scientific article

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

scientific article

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

scientific article

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

scientific article published on 24 July 2014

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype ⬇️

scientific article published on November 26, 2010

Segregation of ATP10B variants in families with autosomal recessive parkinsonism

scientific article published on 05 September 2020

Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism ⬇️

scientific article published on October 1, 1998

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

scientific article published on 30 October 2015

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

scientific article

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes

scientific article published on May 1995

Spastic Paraplegia 11

scientific article

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

scientific article published on February 2002

Spastic paraplegia 15: linkage and clinical description of three Tunisian families

scientific article

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

scientific article (publication date: November 1999)

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

scientific article published on 22 September 2016

Spectrin mutations cause spinocerebellar ataxia type 5.

scientific article

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

scientific article (publication date: March 2000)

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

scientific article

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

scientific article

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

scientific article published in May 1998

Spinocerebellar ataxia with mental retardation (SCA13).

scientific article

Spinocerebellar ataxia with sensory neuropathy (SCA25)

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

scientific article

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.

scientific article published on 19 November 2014

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

scientific article published in January 2007

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

scientific article published on 16 November 2018

Survival and severity in dominant cerebellar ataxias

scientific article

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

scientific article published on 13 March 2018

Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study

article

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

scientific article published on April 2009

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

scientific article

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia ⬇️

scientific article published on June 4, 2013

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

scientific article

The Effect of tau genotype on clinical features in FTDP-17

article

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

scientific article

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

scientific article

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

scientific article

The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease ⬇️

scientific article published on March 20, 1995

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease

scientific article

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

scientific article

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations

scientific article

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease ⬇️

scientific article published on March 1, 1998

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

scientific article published in July 2001

The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q

scientific article (publication date: April 1999)

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

The normal parkin sequence ⬇️

scientific article published on November 16, 2011

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations

scientific article

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

scientific article

Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism

scientific article published on October 2001

Tissue- and cell-specific mitochondrial defect in Parkin-deficient mice

scientific article (publication date: 2014)

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

scientific article

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

scientific article

Unlocking the genetics of paroxysmal kinesigenic dyskinesia ⬇️

scientific article published on December 1, 2011

Unstable mutations and neurodegenerative disorders ⬇️

scientific article published on 01 August 1998

Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease

scientific article

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

article

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

scientific article (publication date: May 2003)

Variants associated with Gaucher disease in multiple system atrophy

scientific article

Variations in the APP gene promoter region and risk of Alzheimer disease.

scientific article published in February 2007

What genetics tells us about the causes and mechanisms of Parkinson's disease

scientific article published on October 2011

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations

scientific article published on 28 January 2016

cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein

scientific article

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes

scientific article

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