Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Maria de los Angeles Beytía"'
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Early and lethal neurodegeneration with myasthenic and myopathic features:A new ALG14-CDG
Autor: Richard J. Rodenburg, Rudolf Korinthenberg, Lauren Brady, David Schorling, Dirk Lefeber, Clemens R. Müller, Carsten G. Bönnemann, Marcus Krüger, Marjo S. van der Knaap, Marianna Bugiani, Mark A. Tarnopolsky, Jan Kirschner, Simone Rost, Maria de los Angeles Beytía
Publikováno v: Schorling, D C, Rost, S, Lefeber, DI J, Brady, L, Müller, C R, Korinthenberg, R, Tarnopolsky, M, Bönnemann, C G, Rodenburg, R J, Bugiani, M, Beytia, M, Krüger, M, Van Der Knaap, M & Kirschner, J 2017, ' Early and lethal neurodegeneration with myasthenic and myopathic features : A new ALG14-CDG ', Neurology, vol. 89, no. 7, pp. 657-664 . https://doi.org/10.1212/WNL.0000000000004234
Neurology, 89, 657-664
Neurology, 89(7), 657-664. Lippincott Williams and Wilkins
Neurology, 89, 7, pp. 657-664
Objective:To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.Methods:This case study of 5 patients from 3 families includes clinical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618a782736a34ec3ed1c6f0171b69558
https://research.vumc.nl/en/publications/bb8c1b9d-6182-4094-a134-c113bdfc7d3c
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3
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency
Autor: Maria de los Angeles Beytía, Constantin Anastasopoulos, Verena Haug, Gabriele Dekomien, Sabine Hoffjan, Janbernd Kirschner
Publikováno v: Molecular and cellular probes. 28(4)
Primary deficiency of laminin alpha-2 due to mutations in the LAMA2 gene accounts for 30% of all patients with congenital muscular dystrophy. Here, we present seven patients with partial or total laminin alpha-2 deficiency (MDC1A) with a wide clinica
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed4ca7e53c166305878b6c79f69845a
https://pubmed.ncbi.nlm.nih.gov/24225367
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4
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives
Autor: Maria de los Angeles, Beytía, Julia, Vry, Janbernd, Kirschner
Publikováno v: Acta Myologica
Duchenne muscular dystrophy (DMD) is a disease linked to the X-chromosome which affects 1 in 3,600-6,000 newborn males. It is manifested by the absence of the dystrophin protein in muscle fibres, which causes progressive damage leading to death in th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7399bacebdcbef426a08f93daff16b65
https://pubmed.ncbi.nlm.nih.gov/22655510
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Akademický článek
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports
Autor: Daniela Avila-Smirnow, Audrey Boutron, María de Los Ángeles Beytía-Reyes, Oscar Contreras-Olea, Alfredo Caicedo-Feijoo, Roger Gejman-Enríquez, Raúl Escobar-Henríquez, Jorge Förster-Mujica
Publikováno v: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Nati
Externí odkaz: https://doaj.org/article/58ebe0076def48219906a1b34719a13b
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