Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
Source
International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas) : an important cause of late-onset ataxia with unique clinical features
Source
Acta neurologica Belgica - ISSN 0300-9009-122:4 (2022) p. 939-945
Phenotypical spectrum of SACS variants : neuromuscular perspective of a complex neurodegenerative disorder
Source
Acta neurologica Scandinavica - ISSN 0001-6314-145:5 (2022) p. 619-626
Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia
Source
Cells - ISSN 2073-4409-11:18 (2022) p. 1-14
Clinical and genetic survey for Charcot-Marie-Tooth neuropathy based on the findings in Turkey, a country with a high rate of consanguineous marriages
Source
Balkan Medical Journal - ISSN 2146-3123-39:1 (2022) p. 3-11