[HTML][HTML] Clinical and genetic survey for Charcot-Marie-Tooth neuropathy based on the findings in Turkey, a country with a high rate of consanguineous marriages

A Candayan, Y Parman, E Battaloğlu - Balkan Medical Journal, 2022 - ncbi.nlm.nih.gov
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of disorders of the
peripheral nervous system. The most common type of IPN is Charcot-Marie-Tooth (CMT) …

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan

AN Ahmed, LE Rawlins, N Khan, Z Jan, N Ubeyratna… - BMC neurology, 2024 - Springer
Background Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited
progressive peripheral neuropathies characterized by reduced nerve conduction velocity …

[HTML][HTML] Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in …

D Atkinson, T Chamova, A Candayan… - International journal of …, 2024 - mdpi.com
Charcot–Marie–Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the
peripheral nervous system caused by biallelic mutations in the N-Myc Downstream …

Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants

A Cakar, A Candayan, G Bagırova… - European Journal of …, 2025 - Wiley Online Library
Abstract Background Charcot–Marie‐Tooth (CMT) disease is the most common inherited
neuropathy. In this study, we aimed to analyze the genetic spectrum and describe …

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease

T Karakaya, A Turkyilmaz, G Sager, R Inan, O Yarali… - neurogenetics, 2022 - Springer
Abstract Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited
peripheral neuropathies with a significant prevalence throughout the world and manifests …

Epidemiological Study of Neuromuscular Diseases in the Varna Region

МВ Грудкова - 2023 - search.proquest.com
Наследствените неврологични заболявания представляват широка хетерогенна група
от болести, които засягат главния и гръбначния мозък, мускулите и нервите. По-голяма …

Epidemiological Study of Neuromuscular Diseases in the Varna Region//Епидемиологично проучване на невромускулните заболявания във Варненския регион

М Грудкова - 2023 - repository.mu-varna.bg
Наследствените неврологични заболявания представляват широка хетерогенна група
от редки и трудно разпознаваеми болести, които причиняват тежка инвалидизация и …