Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Christian A. Hübner, Gudrun Nürnberg et al.|Nature Genetics|2009Cited by 256
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission DefectJan Senderek, Hanns Lochmüller|The American Journal of Human Genetics|2011Cited by 172
Molecular characterization of congenital myasthenic syndromes in SpainDaniel Natera‐de Benito, A. Nascimento, Ana Töpf et al.|Neuromuscular Disorders|2017Cited by 79
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, John C. Ambrose, Arianna Tucci et al.|Genetics in Medicine|2022Cited by 20
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Tobias B. Haack, Arianna Tucci et al.|Genetics in Medicine|2023Cited by 4