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 · 970 citations · Full text

Neurodegenerative Diseases, Protein Function, Amyotrophic Lateral Sclerosis +6

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 · 228 citations · Full text

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 · 176 citations · Full text

Late-onset Forms, Antiparasitic Agent, Glycobiology +16

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Oscar Suzuki, Andréa L. Sertié, Vazken M. Der Kaloustian et al. · The American Journal of Human Genetics · 2002 · 154 citations · Full text

Third Isoform, Mendelian Disorder, Genetic Disorder +9

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 149 citations · Full text

Amyotrophic Lateral Sclerosis, Neurological Disorder, Excess Sphingolipid Synthesis +3