Kishore R. Kumar

Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort

Brit Mollenhauer, Ellen Trautmann, Friederike Sixel‐Döring et al. · Neurology · 2013 · 186 citations

Medicine, Neurology, Neuroscience +13

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi et al. · Science Advances · 2022 · 183 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 164 citations · Full text

Life Sciences, Neurology, Neuroscience +10

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <i>TUBB4</i> gene

Katja Lohmann, Susen Winkler, Alfredo Ramı́rez et al. · Annals of Neurology · 2012 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13