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J Haberlová

Showing results (1-10 of 9) with videos related to

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Neuromuscular Disorders : NMD|May 5, 2009
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotypeJ Haberlová, K G Claeys, P De Jonghe, et al.
Clinical Genetics|January 30, 2016
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNLD Šafka Brožková, J Haberlová, R Mazanec, et al.
Clinical Genetics|May 12, 2010
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ geneD Brozková, R Mazanec, J Haberlová, et al.
Clinical Genetics|February 5, 2011
High frequency of SH3TC2 mutations in Czech HMSN I patientsP Laššuthová, R Mazanec, P Vondráček, et al.
Scientific Reports|April 20, 2021
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patientsP Laššuthová, R Mazanec, D Staněk, et al.
Neurogenetics|October 25, 2014
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptomP Laššuthová, D Šafka Brožková, M Krůtová, et al.
Journal of Neurogenetics|November 19, 2011
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathyJ Haberlová, R Mazanec, P Ridzoň, et al.
European Journal of Neurology|August 7, 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutationsD Safka Brozkova, T Stojkovic, J Haberlová, et al.
Clinical Genetics|July 23, 2016
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech RepublicK Stehlíková, D Skálová, J Zídková, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|May 5, 2009
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotypeJ Haberlová, K G Claeys, P De Jonghe, et al.
Clinical Genetics|January 30, 2016
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNLD Šafka Brožková, J Haberlová, R Mazanec, et al.
Clinical Genetics|May 12, 2010
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ geneD Brozková, R Mazanec, J Haberlová, et al.
Clinical Genetics|February 5, 2011
High frequency of SH3TC2 mutations in Czech HMSN I patientsP Laššuthová, R Mazanec, P Vondráček, et al.
Scientific Reports|April 20, 2021
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patientsP Laššuthová, R Mazanec, D Staněk, et al.
Neurogenetics|October 25, 2014
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptomP Laššuthová, D Šafka Brožková, M Krůtová, et al.
Journal of Neurogenetics|November 19, 2011
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathyJ Haberlová, R Mazanec, P Ridzoň, et al.
European Journal of Neurology|August 7, 2020
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutationsD Safka Brozkova, T Stojkovic, J Haberlová, et al.
Clinical Genetics|July 23, 2016
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech RepublicK Stehlíková, D Skálová, J Zídková, et al.
Pageof 1