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Search for publications relevant for "HMSN"
HMSN
Publication
Class
Person
Publication
Programmes
publication
Most important rules of prosthetic care in patients suffering from hereditary motor and sensory neuropathy (HMSN)
+1
2005 |
Second Faculty of Medicine
publication
Genotype/phenotype correlations in DMD/BMD and HMSN
1998 |
Second Faculty of Medicine
publication
Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature
2002 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Hereditary neuropathies in childhood
2022 |
Second Faculty of Medicine
publication
Divergent phenotypes of Charcot-Marie-Tooth disease: demyelinating with childhood onset and axonal with late onset and slow pupillary reaction, resulting from different myelin protein zero (MPZ, P0) gene mutations
2004 |
Second Faculty of Medicine
publication
High frequency of SH3TC2 mutations in Czech HMSN I patients
2011 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers
1999 |
Second Faculty of Medicine
publication
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
2017 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)
2003 |
Second Faculty of Medicine
publication
Deformities of the spine in hereditary motor-sensory neuropathy
2005 |
Second Faculty of Medicine
publication
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
2022 |
Second Faculty of Medicine
publication
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
2005 |
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
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
2014 |
Second Faculty of Medicine
publication
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Possibilities of rehabilitation in patients with Charcot-Marie-Tooth disease
2002 |
Second Faculty of Medicine
publication
Rehabilitation of polyneuropathic syndromes
2006 |
Second Faculty of Medicine
publication
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
2013 |
Second Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Hereditary Neuropathy
2009 |
Second Faculty of Medicine
publication
Spinal deformities in hereditary motor and sensory neuropathy - A retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients
2007 |
Second Faculty of Medicine
publication
Effect of functional stabilization training on balance and motor patterns in a patient with Charcot-Marie-Tooth disease
2012 |
Second Faculty of Medicine
publication
Hereditary neuropathy
+1
2015 |
Second Faculty of Medicine
publication
Genotype/phenotype correlations in neuromuscular disorders
1998 |
Second Faculty of Medicine
publication
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
2016 |
Second Faculty of Medicine
publication
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
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
2001 |
Second Faculty of Medicine