about
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophyA deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsC9orf72 repeat expansions are a rare genetic cause of parkinsonismAtaxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusionsELOVL5 mutations cause spinocerebellar ataxia 38Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionParkin protects dopaminergic neurons from excessive Wnt/beta-catenin signalingParkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell deathCloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsLoss of association of REEP2 with membranes leads to hereditary spastic paraplegiaMutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismMutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaKCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsAutosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaMutations 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 glaucomaMapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationChromosome 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 StudyClose associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populationsHereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyImputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studiescDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active proteinThe sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populationsMutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson diseaseParkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channelsPML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteinsSpastic Paraplegia 11The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Tissue- and cell-specific mitochondrial defect in Parkin-deficient miceExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersThe human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5qSpastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaA fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegiaSpectrum of SPG4 mutations in autosomal dominant spastic paraplegia
P50
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P50
description
Frans neuroloog
@nl
hulumtues
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neurólogo francés
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neurólogu francés
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researcher
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ricercatore
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taighdeoir
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հետազոտող
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طبيب أعصاب فرنسي
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name
Alexis Brice
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Alexis Brice
@ca
Alexis Brice
@en
Alexis Brice
@es
Alexis Brice
@fr
Alexis Brice
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Alexis Brice
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type
label
Alexis Brice
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Alexis Brice
@ca
Alexis Brice
@en
Alexis Brice
@es
Alexis Brice
@fr
Alexis Brice
@nl
Alexis Brice
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altLabel
Brice A
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prefLabel
Alexis Brice
@ast
Alexis Brice
@ca
Alexis Brice
@en
Alexis Brice
@es
Alexis Brice
@fr
Alexis Brice
@nl
Alexis Brice
@sl
P214
P244
P268
P269
P108
P1412
P21
P213
0000 0000 3588 7474
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n2006064695
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1957-04-27T00:00:00Z
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uk2008407355
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lccn-n2006064695