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Czech patient
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MUDr. Lucia Marková Ph.D.
External person at Second Faculty of Medicine
10 publications
Publications
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
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
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
2005 |
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
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
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
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
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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