Odborné studie (EN)

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

C-M-T Project in the Czech Republic

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

COX6A1 mutation causes axonal hereditary motor and sensory neuropathy – the confirmation of the primary report

Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype

Czech family confirms the link between FBLN5 and Charcot–Marie–Tooth type 1 neuropathy

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

Diagnosis and new treatments in genetic neuropathies

Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes

Evaluation of muscle strength and manual dexterity in patients with Charcot-Marie-Tooth disease

GDAP1 mutations in Czech families with early-onset CMT

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

Hereditary motor and sensory neuropathies – Understanding molecular pathogenesis could lead to future treatment strategies

Hereditary neuropathy with liability to pressure palsy

High frequency of SH3TC2 mutations in Czech HMSN I patients

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

Charcot–Marie–Tooth 1A – Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

Charcote-Mariee-Tooth disease – frequency of genetic subtypes and guidelines for genetic testing

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

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

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

Charcot-Marie-Tooth type X – A novel mutation in the Cx32 gene with central conduction slowing

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Inherited Peripheral Neuropathies

L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

Lessons from London

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Lower urinary tract functions in a series of Charcot–Marie–Tooth neuropathy patients

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth Disease

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP – Rare CNVs as a Cause for Missing Heritability

MFN2 mutation distribution and genotype-phenotype correlation in Charcot–Marie–Tooth type 2

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

MPZ mutations associated with deafness and abnormal pupillar reaction in Czech CMT2 patients, but also in HMSN III patients

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Neurogenetics and DNA laboratory

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

Outcome measures for Charcot-Marie-Tooth disease – clinical and neurofunctional assessment in children

Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy

Pregnancies and deliveries in patients with Charcot–Marie–Tooth disease

Pulmonary function in patients with hereditary motor and sensory neuropathy

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies – a genotype – phenotype correlation study

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

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene

Simple Mutation in Demyelinating Neuropathy and Distribution in Sciatis Nerve

Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients

Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease

Validity of Hospital Discharge Data for Identifying Cases of Amyotrophic Lateral Sclerosis

X-Linked Charcot-Marie-Tooth disease – phenotypic expression of a novel mutation Ile127Ser in the GJB1 (Connexin 32) gene