Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 335 citations

Medicine, Neurology, Neuroscience +11

Crystal structure of <i>cis</i> -prenyl chain elongating enzyme, undecaprenyl diphosphate synthase

M. Fujihashi, Yuan‐Wei Zhang, Yoshiki Higuchi et al. · Proceedings of the National Academy of Sciences · 2001 · 163 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Eon Joo Park, Kariona A. Grabińska, Ziqiang Guan et al. · Cell Metabolism · 2014 · 143 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Lina Zelinger, Eyal Banin, Alexey Obolensky et al. · The American Journal of Human Genetics · 2011 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa et al. · Journal of Human Genetics · 2019 · 70 citations

Medicine, Bioinformatics, Molecular Genetics +14