Jana Haberlová

Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin et al. · Brain · 2015 · 83 citations · Full text

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Craig L. Bennett, Andrew J. Shirk, Huy M. Huynh et al. · Annals of Neurology · 2004 · 70 citations

Peripheral Neuropathy, Mendelian Disorder, Neurological Disorder +15

High frequency of SH3TC2 mutations in Czech HMSN I patients

Petra Laššuthová, Radim Mazanec, P. Vondráček et al. · Clinical Genetics · 2011 · 54 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +15

Homozygous<b><i>EXOSC3</i></b>Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Jaroslava Paulasová Schwabová, Dana Šafka Brožková, B. Petrák et al. · Journal of Neurogenetics · 2013 · 43 citations

Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic

Helena Kočová, Olga Dvořáčková, Petr Vondráček et al. · Pediatric Neurology · 2014 · 34 citations

Quality Of Life, Life Assessment, Physical Activity +13