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First-in-human AAV Gene Therapy for Tay-Sachs Disease

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Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

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Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.

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AAV gene therapy for Tay-Sachs disease

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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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A novel mutation in the spastin gene in a family with spastic paraplegia

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Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

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Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

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Superoxide Dismutase Concentration and Activity in Familial Amyotrophic Lateral Sclerosis

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Mutational analysis of TARDBP in neurodegenerative diseases

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NurOwn, phase 2, randomized, clinical trial in patients with ALS

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