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 · 86 citations · Full text

Life Sciences, Genetics, Neurology +16

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

Life Sciences, Genetics, Neurology +17

High frequency of SH3TC2 mutations in Czech HMSN I patients

Petra Laššuthová, Radim Mazanec, P. Vondráček et al. · Clinical Genetics · 2011 · 55 citations

Life Sciences, Genetics, Neurology +17

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 · 45 citations

Life Sciences, Genetics, Molecular Genetics +14

2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Janbernd Kirschner, Günther Bernert, Nina Butoianu et al. · European Journal of Paediatric Neurology · 2024 · 37 citations · Full text

Medicine, Genetics, Molecular Biology +16