Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Centronuclear Myopathy[original query] |
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Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy. Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 2011 1 23 (1): 124-6. Gentilini Fabio, Zambon Elisa, Gandini Gualtiero, Rosati Marco, Spadari Alessandro, Romagnoli Noemi, Turba Maria Elena, Gernone Floria |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 Oct 81 (14): 1205-14. Ceyhan-Birsoy Ozge, Agrawal Pankaj B, Hidalgo Carlos, Schmitz-Abe Klaus, DeChene Elizabeth T, Swanson Lindsay C, Soemedi Rachel, Vasli Nasim, Iannaccone Susan T, Shieh Perry B, Shur Natasha, Dennison Jane M, Lawlor Michael W, Laporte Jocelyn, Markianos Kyriacos, Fairbrother William G, Granzier Henk, Beggs Alan |
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular disorders : NMD 2015 Jul 25 (7): 567-76. Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology 2015 May 122 (5): 1033-46. Fiszer Dorota, Shaw Marie-Anne, Fisher Nickla A, Carr Ian M, Gupta Pawan K, Watkins Elizabeth J, Roiz de Sa Daniel, Kim Jerry H, Hopkins Philip |
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. Journal of human genetics 2016 Jun . Kitamura Yuri, Kondo Eri, Urano Mari, Aoki Ryoko, Saito Kayo |
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. Neurology 2018 6 91 (4): e339-e348. Cabrera-Serrano Macarena, Mavillard Fabiola, Biancalana Valerie, Rivas Eloy, Morar Bharti, Hernández-Laín Aurelio, Olive Montse, Muelas Nuria, Khan Eduardo, Carvajal Alejandra, Quiroga Pablo, Diaz-Manera Jordi, Davis Mark, Ávila Rainiero, Domínguez Cristina, Romero Norma Beatriz, Vílchez Juan J, Comas David, Laing Nigel G, Laporte Jocelyn, Kalaydjieva Luba, Paradas Carm |
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 10 43 (4): 2803-2811. Wang Qi, Yu Meng, Xie Zhiying, Liu Jing, Wang Qingqing, Lv He, Zhang Wei, Yuan Yun, Wang Zhaox |
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International journal of molecular sciences 2023 5 24 (9): . Polina Chausova, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, Aleksander Poliak |
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