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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

The American Journal of Human Genetics · 2004 · Vol. 75(5) · pp. 822–831

Agnes L. Nishimura✉(Human Genome Sciences (United States))Miguel Mitne‐Neto(Human Genome Sciences (United States))Helga Cristina Almeida da Silva(Universidade Federal de São Paulo)Antônio Richieri‐Costa(Universidade de São Paulo)Susan Middleton(University of Edinburgh)Duilio Cascio(University of California, Los Angeles)Fernando Kok(Human Genome Sciences (United States))João Ricardo Mendes de Oliveira(Human Genome Sciences (United States))Thomas H. Gillingwater(University of Edinburgh)Jeanette Webb(University of Edinburgh)Paul Skehel(University of Edinburgh)Mayana Zatz(Human Genome Sciences (United States))

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Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Genetic Neurodegenerative DiseasesAmyotrophic lateral sclerosisSpinal muscular atrophyProgressive muscular atrophyAtrophyMedicineMutationNeurosciencePathologyBiologyGenetics

MeSH terms

AdultAmino Acid SequenceAmyotrophic Lateral SclerosisBrazilCalcium-Binding ProteinsCells, CulturedChromosome MappingChromosomes, Human, Pair 20HumansMiddle AgedModels, MolecularMolecular Sequence DataMuscular Atrophy, SpinalPedigreeGene Expression

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State of play in amyotrophic lateral sclerosis genetics