Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Tayebeh Rezaie, Anne H. Child, Roger A. Hitchings et al. · Science · 2002 · 1.1K citations

Life Sciences, Genetics, Ophthalmology +13

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

Life Sciences, Neurology, Neuroscience +12

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Marka van Blitterswijk, Michael A. van Es, Eric A. M. Hennekam et al. · Human Molecular Genetics · 2012 · 351 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>SOD1</i>, <i>ANG</i>, <i>VAPB</i>, <i>TARDBP</i>, and <i>FUS</i> mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Stéphanie Millecamps, François Salachas, C. Cazeneuve et al. · Journal of Medical Genetics · 2010 · 296 citations · Full text

Life Sciences, Genetics, Neurology +17

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

Han-Jou Chen, Georgia Anagnostou, Andrea Chai et al. · Journal of Biological Chemistry · 2010 · 178 citations · Full text

Life Sciences, Genetics, Neuroscience +17