J. Haberlová

发表

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

K. Claeys, B. Ceulemans, M. Sereda, 2007, Archives of neurology.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

E. Mercuri, E. Malfatti, R. Carlier, 2019, Journal of Neurology.

Muscular dystrophy in childhood

J. Haberlová, J. Haberlova, 2019, Neurologie pro praxi.

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

P. Hedvičáková, P. Seeman, J. Zamecnik, 2013, Journal of neurogenetics.

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

High frequency of SH3TC2 mutations in Czech HMSN I patients

P. Vondracek, P. Seeman, R. Mazanec, 2011, Clinical genetics.

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

P. Seeman, R. Mazanec, J. Haberlová, 2010, Genetic testing and molecular biomarkers.

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

K. Claeys, P. Seeman, J. Zamecnik, 2008, Journal of Neurology.

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

K. Huehne, B. Rautenstrauss, P. Seeman, 2009, Journal of Human Genetics.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

P. Seeman, R. Mazanec, J. Haberlová, 2016, Clinical genetics.

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

A. Ziegler, E. Mercuri, F. Muntoni, 2020, European Journal of Paediatric Neurology.

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

G. Nürnberg, P. Nürnberg, K. Huehne, 2011, Journal of neurogenetics.

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

M. Hermanová, K. Stehlikova, P. Vondracek, 2014, BMC Neurology.

Spinal muscular atrophy in childhood - actual treatment options

P. Hedvičáková, J. Haberlová, T. Doušová, 2022, Neurologie pro praxi.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Children and young adults with spinal muscular atrophy treated with nusinersen.

D. Osredkar, J. Haberlová, T. Golli, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers

J. Máchal, M. Pešl, R. Panovský, 2019, Scientific Reports.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

K. Claeys, D. Pareyson, T. Mongini, 2022, Journal of neuromuscular diseases.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

K. Stehlikova, P. Vondracek, L. Fajkusová, 2017, Clinical genetics.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

Duchenne muscular dystrophy

Lenka Juříková, J. Haberlová, Z. Bálintová, 2019, Neurologie pro praxi.

MRI in sarcoglycanopathies: a large international cohort study

E. Bertini, E. Mercuri, F. Muntoni, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

P. Krsek, K. Štěrbová, P. Seeman, 2018, Neuropediatrics.

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

P. Seeman, R. Mazanec, P. Laššuthová, 2013, Molecular medicine reports.

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

P. Seeman, R. Mazanec, Jiří Böhm, 2011, Muscle & nerve.