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Search for publications relevant for "hereditary neuropathy"
hereditary neuropathy
Publication
Class
Person
Publication
Programmes
publication
Hereditary Neuropathy
+1
2010 |
Second Faculty of Medicine
publication
Hereditary neuropathies
Publication without faculty affiliation
publication
Hereditary neuropathy
+1
2015 |
Second Faculty of Medicine
publication
Hereditary neuropathy with liability to pressure palsy
2006 |
Second Faculty of Medicine
publication
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
2021 |
Second Faculty of Medicine
publication
OBJECTIFICATION OF CHANGES IN SELECTED GAIT PARAMETERS IN PATIENTS WITH HEREDITARY NEUROPATHY (CMT) USING KINEMATIC ANALYSIS
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Hereditary neuropathies in childhood
2022 |
Second Faculty of Medicine
publication
Physiotherapeutical methods used in patients suffering from hereditary neuropathy
2005 |
Central Library of Charles University
publication
Back pain in hereditary neuropathy
2002 |
Second Faculty of Medicine
publication
Examination of cardiovascular reactivity in patients with hereditary neuropathy
2014 |
Second Faculty of Medicine
publication
Clinical picture, genetics and DNA examination in hereditary neuropathy
2000 |
Second Faculty of Medicine
publication
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
2015 |
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
Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve
2011 |
First 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
Hereditary motor neuropathies
2016 |
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 neuropathy type 1A combined with Duchenne muscular dystrophy
2007 |
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
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
2010 |
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
Peripheral neuropathy in children
2018 |
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
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
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report
2016 |
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
Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)
2003 |
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