ℹ️
🇬🇧
Search
Search for publications relevant for "Hereditary motor and sensory neuropathy"
Hereditary motor and sensory neuropathy
Publication
Class
Person
Publication
Programmes
Export current view
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
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
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
Most important rules of prosthetic care in patients suffering from hereditary motor and sensory neuropathy (HMSN)
+1
2005 |
Second Faculty of Medicine
publication
Stability disturbances in patients with hereditary motor and sensory neuropathy
Publication without faculty affiliation
publication
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report
2016 |
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
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
Effect of functional stabilization training on balance and motor patterns in a patient with Charcot-Marie-Tooth disease
2012 |
Second Faculty of Medicine
publication
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
2015 |
Second Faculty of Medicine
publication
Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease
2016 |
Second Faculty of Medicine
publication
X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene
2005 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
2000 |
Second Faculty of Medicine
publication
Hereditary neuropathies
Publication without faculty affiliation
publication
Peripheral neuropathy in children
2018 |
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
Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease
2010 |
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
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
2001 |
Second Faculty of Medicine