Concepedia

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyedmohsen Hosseinibarkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer,

The American Journal of Human Genetics · 2013 · 177 citations · 33 references

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33

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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

Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva et al. · The American Journal of Human Genetics · 2004 · 979 citations · Full text

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Mutant dynactin in motor neuron disease

Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte et al. · Nature Genetics · 2003 · 950 citations · Full text

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 812 citations · Full text

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