Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ramune Vilimiene"'
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMissense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal
Externí odkaz:
https://doaj.org/article/a3d1ad10f6be4ca1a342eecb2505b99b
Autor:
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova, Kristien Peeters
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are a
Externí odkaz:
https://doaj.org/article/b4607f9f7eb949f7be4eff8b58b7b82a
Publikováno v:
Neurology ; genetics, Philadelphia : Lippincot Williams & Wilkins, 2023, vol. 9, no. 3, art. no. e200068, p. [1-5]
ObjectivesTo describe clinical and genetic findings in 2 siblings with slowly progressive ataxia.MethodsWe studied 2 adult siblings through detailed physical and instrumental examinations. Whole-exome sequencing was used to identify an underlying gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db5376f77a87e5848d7543de20767977
https://doi.org/10.1212/nxg.0000000000200068
https://doi.org/10.1212/nxg.0000000000200068