Associated Papers
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.
Başdemirci M et al.
Molecular Syndromology, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Ceprian M et al.
International Journal of Molecular Sciences, 2024
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Crystal and solution structure of NDRG1, a membrane-binding protein linked to myelination and tumour suppression.
Mustonen V et al.
The Febs Journal, 2021
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 2021
Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.
Markworth R et al.
Frontiers in Molecular Neuroscience, 2021
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Safka Brozkova D et al.
Orphanet Journal of Rare Diseases, 2020
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients.
Moosavi RS et al.
Iranian Journal of Child Neurology, 2020
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Pipis M et al.
Nature Reviews. Neurology, 2019
Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system.
Schonkeren SL et al.
Neurogenetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.
Chen B et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
Li LX et al.
Human Mutation, 2017
Genetic factors exist behind the high prevalence of reduced high-density lipoprotein cholesterol levels in the Roma population.
Pikó P et al.
Atherosclerosis, 2017
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Piscosquito G et al.
Journal of the Peripheral Nervous System : Jpns, 2017
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
Šafka Brožková D et al.
Journal of Human Genetics, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.
Šafka Brožková D et al.
Clinical Genetics, 2016
Abstracts of the Fifth Annual Meeting of the Italian Association for the Study of the Peripheral Nervous System (ASNP).
Unknown Author
Journal of the Peripheral Nervous System : Jpns, 2015
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Zimoń M et al.
Neurogenetics, 2015
Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.
Luigetti M et al.
Journal of the Neurological Sciences, 2014
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Okamoto Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Carrier rates of four single-gene disorders in Croatian Bayash Roma.
Barešić A et al.
Genetic Testing and Molecular Biomarkers, 2014
Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.
Gabrikova D et al.
Journal of Applied Genetics, 2013
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R et al.
Neurology, 2013
NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation.
Pietiäinen V et al.
Journal of Cell Science, 2013
CMT4D (NDRG1 mutation): genotype-phenotype correlations.
Ricard E et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Sevilla T et al.
Clinical Genetics, 2013
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth.
Keckarevic Markovic MP et al.
Genetic Testing and Molecular Biomarkers, 2013
Recessively transmitted predominantly motor neuropathies.
Parman Y et al.
Handbook of Clinical Neurology, 2013
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C et al.
Journal of Neurology, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C et al.
Advances in Experimental Medicine and Biology, 2012
Ndrg1 in development and maintenance of the myelin sheath.
King RH et al.
Neurobiology of Disease, 2011
[Hereditary peripheral neuropathies].
Vallat JM et al.
Presse Medicale (paris, France : 1983), 2009
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
Sahin-Calapoglu N et al.
The International Journal of Neuroscience, 2009
Hereditary motor and sensory neuropathy Lom type in a Serbian family.
Dacković J et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2008
Charcot-Marie-Tooth disease: a clinico-genetic confrontation.
Barisic N et al.
Annals of Human Genetics, 2008
NDRG1, a growth and cancer related gene: regulation of gene expression and function in normal and disease states.
Ellen TP et al.
Carcinogenesis, 2008
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R et al.
Muscle & Nerve, 2007
Impaired mast cell maturation and degranulation and attenuated allergic responses in Ndrg1-deficient mice.
Taketomi Y et al.
Journal of Immunology (baltimore, Md. : 1950), 2007
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Claramunt R et al.
Clinical Genetics, 2007
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
Echaniz-Laguna A et al.
Neuromuscular Disorders : Nmd, 2007
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
Bouwer S et al.
Genetic Testing, 2007
Early clinical and electrophysiologic features of the two most common autosomal recessive forms of Charcot-Marie-Tooth disease in the Roma (Gypsies).
Guergueltcheva V et al.
Journal of Child Neurology, 2006