Publications by authors named "J Neupauerova"

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UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Lucie Sedláčková, Petra Laššuthová, Katalin Štěrbová, Jana Haberlová, Emílie Vyhnálková

Neuropediatrics· February 2019

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Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
P Laššuthová, K Vill, S Erdem-Ozdamar, J M Schröder, H Topaloglu

Clin Genet· November 2018

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta

Brain· November 2018

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Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.
Irena Borgulová, Inna Soldatova, Martina Putzová, Marcela Malíková, Jana Neupauerová

J Hum Genet· July 2018

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Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová

Orphanet J Rare Dis· May 2018

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