Radim Mazanec

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi, Katrien Van Impe, Pavel Seeman et al. · Nature Genetics · 2004 · 416 citations

Peripheral Nerves, Protein Folding, Medicine +6

Autologous Bone Marrow Transplantation in Patients with Subacute and Chronic Spinal Cord Injury

Eva Syková, Aleš Homola, Radim Mazanec et al. · Cell Transplantation · 2006 · 330 citations · Full text

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

Zuzana Mušová, Radim Mazanec, Anna Křepelová et al. · American Journal of Medical Genetics Part A · 2009 · 154 citations

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Ines Dierick, Jonathan Baets, Joy Irobi et al. · Brain · 2007 · 122 citations · Full text

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text