Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Michael A. van Es, Jan H. Veldink, Christiaan G. J. Saris, +51

Nature Genetics

Genome-wide Association StudyNeurodegenerative DiseasesAmyotrophic Lateral SclerosisGeneticsGenetic Epidemiology +5

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Aleksey Shatunov, Kin Y. Mok, Stephen Newhouse, +34

The Lancet Neurology

Reduced expression of the <i>Kinesin-Associated Protein 3</i> ( <i>KIFAP3</i> ) gene increases survival in sporadic amyotrophic lateral sclerosis

John E. Landers, Judith Melki, Vincent Meininger, +43

Proceedings of the National Academy of Sciences

Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Isabella Fogh, Kuang Lin, Cinzia Tiloca, +46

JAMA Neurology

cDNA Isolation, Expression, and Chromosomal Localization of the Mouse Survival Motor Neuron Gene (Smn)

Louis Viollet, Solange Bertrandy, Ana Lúcia Brunialti Godard, +7

Genomics

Molecular NeuroscienceChromosomal LocalizationCdna IsolationNeuroscienceMolecular Neurobiology +5

Amniotic Fluid Stem Cells Restore the Muscle Cell Niche in a <i>HSA‐Cre</i> , <i> Smn ^F7/F7 </i> Mouse Model

Martina Piccoli, Chiara Franzin, Enrica Bertin, +12

Stem Cells

Motor Neuron GeneTail Vein TransplantationStem Cell BiologyCellular PhysiologyRegenerative Medicine +14

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, +52

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathology +5

Juvenile‐onset spinal muscular atrophy caused by compound heterozygosity for mutations in the <i>HEXA</i> gene

Ruth Navon, Rami Khosravi, Judith Melki, +7

Annals of Neurology

Early detection of mouse wobbler mutation

Vincent des Portes, Muriel Coulpier, Judith Melki, +1

Neuroreport

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Enrica Marchionni, Aurélie Méneret, Boris Keren, +6

Tremor and Other Hyperkinetic Movements

Neurological DisorderGeneticsCommon Neurological DisordersSocial SciencesNeurobiology Of Disease +16