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Charcot-Marie-Tooth neuropathy
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Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease
2010 |
Second Faculty of Medicine
publication
Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations
2020 |
Second Faculty of Medicine
publication
Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients
2014 |
Second Faculty of Medicine
publication
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
2007 |
Second Faculty of Medicine
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
2012 |
First Faculty of Medicine
publication
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family
2012 |
Second Faculty of Medicine
publication
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
2019 |
Second Faculty of Medicine
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Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY
2011 |
First Faculty of Medicine
publication
Stability disturbances in patients with hereditary motor and sensory neuropathy
Publication without faculty affiliation
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
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
2004 |
Second Faculty of Medicine
publication
Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity
2012 |
First Faculty of Medicine
publication
Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity
2012 |
Second Faculty of Medicine
publication
Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene
2012 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic
2018 |
First Faculty of Medicine