Fernando Kok

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Michèl A.A.P. Willemsen, Marcel M. Verbeek, Erik‐Jan Kamsteeg et al. · Brain · 2010 · 234 citations · Full text

Medicine, Neurology, Neuroscience +14

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

Gustavo Maegawa, Michael B. Tropak, Justin Buttner et al. · Journal of Biological Chemistry · 2007 · 177 citations · Full text

Life Sciences, Medicinal Chemistry, Pharmacology +14