List of works - Alexis Brice

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: May 2011)

Multicenter analysis of glucocerebrosidase mutations in Parkinson's 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)

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

scientific article (publication date: 25 May 2000)

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

scientific article (publication date: July 2008)

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

scientific article

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

scientific article

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

scientific article

Clinical and genetic abnormalities in patients with Friedreich's ataxia

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: November 1999)

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

scientific article (publication date: May 2001)

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

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

scientific journal article

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

scientific article published on October 2011

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

scientific article published on April 1, 2013

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

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

scientific article

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

article

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

scientific article

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

scientific article

Spectrin mutations cause spinocerebellar ataxia type 5.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 18 February 2007

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

scientific article published on 30 August 2011

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

scholarly article

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

scientific article

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

scientific article published in May 1998

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

scientific article published on April 2009

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

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

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

scientific article published in February 2008

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

scientific article

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

scientific article

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

scientific article (publication date: March 2000)

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

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

scientific article published on 25 July 2016

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

scientific article published in June 2003

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

scientific article published on February 1998

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

scientific article published on 14 October 2010

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

scientific article published on July 1996

How much phenotypic variation can be attributed to parkin genotype?

scientific article

List of works by Alexis Brice

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

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

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

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

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

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

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

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

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

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

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

Clinical and genetic abnormalities in patients with Friedreich's ataxia

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

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

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

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

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

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

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

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

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

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

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

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

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

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

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

Spectrin mutations cause spinocerebellar ataxia type 5.

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

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

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

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

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

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

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

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

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

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

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

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

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

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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

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

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

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

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

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

How much phenotypic variation can be attributed to parkin genotype?