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

Georges Imbert, Frédéric Saudou, Gaël Yvert, +12

Nature Genetics

Molecular NeuroscienceSpinocerebellar Ataxia 2High SensitivityGenetic DisorderMendelian Disorder +9

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

Gilles David, Nacer Abbas, Giovanni Stévanin, +15

Nature Genetics

Sca7 GeneMolecular ResearchNatural SciencesGeneticsMolecular Biology +3

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

Alexandra Dürr, Giovanni Stévanin, Géraldine Cancel‐Tassin, +11

Annals of Neurology

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Phillip F. Chance, Nacer Abbas, M. William Lensch, +4

Human Molecular Genetics

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

Ken McElreavey, R Rappaport, Éric Vilain, +11

Human Genetics

BiologyY-dna SequenceCytogeneticsNatural SciencesGenetics +10

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

Wen‐Jie Gu, Olga Corti, Francisco Araujo, +8

Neurobiology of Disease

Protein FunctionMedicineGeneticsNatural SciencesMolecular Biology +6

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

Alexandra Dürr, T. de Broucker, Nacer Abbas, +12

The American Journal of Human Genetics

Neurodegenerative DiseasesChromosome 6–LinkedMendelian DisorderGenetic DisorderGenetics +6

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

Géraldine Cancel‐Tassin, Isabelle Gourfinkel‐An, Giovanni Stévanin, +5

Human Mutation

Cloning of Rat Parkin cDNA and Distribution of Parkin in Rat Brain

Wen‐Jie Gu, Nacer Abbas, Martin Zarate Lagunes, +7

Journal of Neurochemistry

Increased Expression and Redistribution of the Antiapoptotic Molecule Bcl-xL in Parkinson's Disease

Andréas Hartmann, Annick Mouatt‐Prigent, Miquel Vila, +5

Neurobiology of Disease

MedicineCell DeathNeuropharmacologyNeuroprotectionMolecular Neurobiology +4