Veronika Boczonadi

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Veronika Boczonadi, Juliane Müller, Angela Pyle et al. · Nature Communications · 2014 · 154 citations · Full text

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 146 citations · Full text

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

D. Herrmann, Rita Horváth, Janet E. Sowden et al. · The American Journal of Human Genetics · 2014 · 119 citations · Full text

Synaptotagmin 2, Mutations Cause, Medicine +11

Genetic heterogeneity of motor neuropathies

Boglárka Bánsági, Helen Griffin, Roger G. Whittaker et al. · Neurology · 2017 · 98 citations · Full text

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Andrea Balreira, Veronika Boczonadi, Emanuele Barca et al. · Journal of Neurology · 2014 · 83 citations · Full text

Progressive Ataxia, Mendelian Disorder, Coq10 Supplementation +13