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Early-onset
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MUDr. Lucia Marková Ph.D.
External person at Second Faculty of Medicine
10 publications
Publications
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
publication
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype
2010 |
Second Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene
2009 |
Second Faculty of Medicine
publication
A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
2008 |
Second Faculty of Medicine
publication
GDAP1 mutations in Czech families with early-onset CMT
2007 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients
2006 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
2005 |
Second Faculty of Medicine
publication
Most important rules of prosthetic care in patients suffering from hereditary motor and sensory neuropathy (HMSN)
2004 |
Second Faculty of Medicine
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