Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 18 (of 18 Records) |
| Query Trace: Congenital Muscular Dystrophy[original query] |
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| A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. American journal of medical genetics. Part A 2004 May 127 (1): 54-7. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N |
| POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscular disorders : NMD 2008 Jul 18 (7): 565-71. Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C P, Uggetti C, Santorelli F M, Bertini E, Mercuri |
| Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2009 Jan 73 (1): 158-61. Arimura Takuro, Hayashi Yukiko K, Murakami Terumi, Oya Yasushi, Funabe Sayaka, Arikawa-Hirasawa Eri, Hattori Nobutaka, Nishino Ichizo, Kimura Akino |
| LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle & nerve 2015 Oct 52 (4): 547-53. Løkken Nicoline, Born Alfred Peter, Duno Morten, Vissing Jo |
| Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci. Physiological research / Academia Scientiarum Bohemoslovaca 2016 Aug . Stránecký V, Ne?oldová M, Hoda?ová K, Hartmannová H, Piherová L, Zemánková P, P?istoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa |
| "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies. Chinese medical journal 0 129 (15): 1811-1816. Fu Jun, Zheng Yi-Ming, Jin Su-Qin, Yi Jun-Fei, Liu Xiu-Juan, Lyn He, Wang Zhao-Xia, Zhang Wei, Xiao Jiang-Xi, Yuan Y |
| 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 |
| Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin ?2-related dystrophy. Pediatric pulmonology 2017 1 52 (4): 524-532. Meilleur Katherine G, Linton Melody M, Fontana Joseph, Rutkowski Anne, Elliott Jeffrey, Barton Mark, McGraw Peter, Kokkinis Angela, Donkervoort Sandra, Leach Meganne, Jain Minal, Dastgir Jahannaz, Collins James, Szczesniak Rhonda, Yang Kelly, Sawnani Hemant, Bönnemann Carsten |
| Novel LAMA2 variants identified in a patient with white matter abnormalities. Human genome variation 2020 6 7 16. Yamamoto-Shimojima Keiko, Ono Hiroaki, Imaizumi Taichi, Yamamoto Toshiyu |
| Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients. Journal of medical genetics 2020 6 58 (5): 326-333. Fan Yanbin, Tan Dandan, Song Danyu, Zhang Xu, Chang Xingzhi, Wang Zhaoxia, Zhang Cheng, Chan Sophelia Hoi-Shan, Wu Qixi, Wu Liwen, Wang Shuang, Yan Hui, Ge Lin, Yang Haipo, Mao Bing, Bönnemann Carsten, Liu Jingying, Wang Suxia, Yuan Yun, Wu Xiru, Zhang Hong, Xiong H |
| Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 2020 5 30 (6): 457-471. Abdel Aleem Alice, Elsaid Mahmoud F, Chalhoub Nader, Chakroun Almahdi, Mohamed Khalid A S, AlShami Rana, Kuzu Omer, Mohamed Reem B, Ibrahim Khalid, AlMudheki Noora, Osman Omar, Ross M Elizabeth, ELalamy Osa |
| FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021 9 92 215-221. Awano Hiroyuki, Saito Yoshihiko, Shimizu Mamiko, Sekiguchi Kenji, Niijima Shinichi, Matsuo Masafumi, Maegaki Yoshihiro, Izumi Isho, Kikuchi Chiya, Ishibashi Masato, Okazaki Tetsuya, Komaki Hirofumi, Iijima Kazumoto, Nishino Ichi |
| Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort. Orphanet journal of rare diseases 2021 7 16 (1): 319. Tan Dandan, Ge Lin, Fan Yanbin, Chang Xingzhi, Wang Shuang, Wei Cuijie, Ding Juan, Liu Aijie, Wang Shuo, Li Xueying, Gao Kai, Yang Haipo, Que Chengli, Huang Zhen, Li Chunde, Zhu Ying, Mao Bing, Jin Bo, Hua Ying, Zhang Xiaoli, Zhang Bingbing, Zhu Wenhua, Zhang Cheng, Wang Yanjuan, Yuan Yun, Jiang Yuwu, Rutkowski Anne, Bönnemann Carsten G, Wu Xiru, Xiong H |
| A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy. Annals of Indian Academy of Neurology 2021 2 23 (5): 694-696. Kutluk Gultekin, Kadem Naz, Bektas Omer, Eroglu Hatice N |
| Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey. Annals of Indian Academy of Neurology 2021 11 24 (4): 547-551. Kutluk Muhammet G, Kadem Naz, Bektas Omer, Randa Nadide C, Tuncer Gökcen O, Albayrak Pelin, Eminoglu Tuba, Teber Serap |
| Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center. Neuromuscular disorders : NMD 2023 4 33 (5): 425-431. Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Ch |
| LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation. Frontiers in genetics 2023 4 14 1135438. Cesar Sergi, Coll Monica, Fiol Victoria, Fernandez-Falgueras Anna, Cruzalegui Jose, Iglesias Anna, Moll Isaac, Perez-Serra Alexandra, Martínez-Barrios Estefanía, Ferrer-Costa Carles, Del Olmo Bernat, Puigmulè Marta, Alcalde Mireia, Lopez Laura, Pico Ferran, Berrueco Rubén, Brugada Josep, Zschaeck Irene, Natera-de Benito Daniel, Carrera-García Laura, Exposito-Escudero Jessica, Ortez Carlos, Nascimento Andrés, Brugada Ramon, Sarquella-Brugada Georgia, Campuzano Osc |
| Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Frontiers in genetics 2023 12 14 1242277. Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokho |
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