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 · 185 citations

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 · 173 citations · Full text

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 · 159 citations · Full text

Pathology, Neurogenetics, Neurology +2

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

Katja Lohmann, Robert A. Wilcox, Susen Winkler et al. · Annals of Neurology · 2012 · 142 citations · Full text

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text