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Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial. Journal of neuromuscular diseases 2021 Jun . McDonald Craig M, Shieh Perry B, Abdel-Hamid Hoda Z, Connolly Anne M, Ciafaloni Emma, Wagner Kathryn R, Goemans Nathalie, Mercuri Eugenio, Khan Navid, Koenig Erica, Malhotra Jyoti, Zhang Wenfei, Han Baoguang, Mendell Jerry R, Similar articles in PubMed
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations. Nature medicine 2021 01 27 (1): 66-72. Park Joseph, Lucas Anastasia M, Zhang Xinyuan, Chaudhary Kumardeep, Cho Judy H, Nadkarni Girish, Dobbyn Amanda, Chittoor Geetha, Josyula Navya S, Katz Nathan, Breeyear Joseph H, Ahmadmehrabi Shadi, Drivas Theodore G, Chavali Venkata R M, Fasolino Maria, Sawada Hisashi, Daugherty Alan, Li Yanming, Zhang Chen, Bradford Yuki, Weaver JoEllen, Verma Anurag, Judy Renae L, Kember Rachel L, Overton John D, Reid Jeffrey G, Ferreira Manuel A R, Li Alexander H, Baras Aris, LeMaire Scott A, Shen Ying H, Naji Ali, Kaestner Klaus H, Vahedi Golnaz, Edwards Todd L, Chen Jinbo, Damrauer Scott M, Justice Anne E, Do Ron, Ritchie Marylyn D, Rader Daniel Similar articles in PubMed
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India. Journal of neuromuscular diseases 2020 Dec . Pathak Pankaj, Sharma Mehar Chand, Jha Pankaj, Sarkar Chitra, Faruq Mohammed, Jha Prerana, Suri Vaishali, Bhatia Rohit, Singh Sumit, Gulati Sheffali, Husain Mohamm Similar articles in PubMed
The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy. Journal of cardiac failure 2020 Aug . Nagai Masashi, Awano Hiroyuki, Yamamoto Tetsushi, Bo Ryosuke, Matsuo Masafumi, Iijima Kazumo Similar articles in PubMed
[Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Feb 37 (2): 150-152. Tian Yang, Hou Chi, Yang Zhixiao, Cao Binbin, Zhang Wei, Chen Wenxio Similar articles in PubMed
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European journal of human genetics : EJHG 2020 Jan . Spitali Pietro, Zaharieva Irina, Bohringer Stefan, Hiller Monika, Chaouch Amina, Roos Andreas, Scotton Chiara, Claustres Mireille, Bello Luca, McDonald Craig M, Hoffman Eric P, , Koeks Zaida, Eka Suchiman H, Cirak Sebahattin, Scoto Mariacristina, Reza Mojgan, 't Hoen Peter A C, Niks Erik H, Tuffery-Giraud Sylvie, Lochmüller Hanns, Ferlini Alessandra, Muntoni Francesco, Aartsma-Rus Annemie Similar articles in PubMed
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Frontiers in genetics 2020 11 605. Passarelli Chiara, Selvatici Rita, Carrieri Alberto, Di Raimo Francesca Romana, Falzarano Maria Sofia, Fortunato Fernanda, Rossi Rachele, Straub Volker, Bushby Katie, Reza Mojgan, Zharaieva Irina, D'Amico Adele, Bertini Enrico, Merlini Luciano, Sabatelli Patrizia, Borgiani Paola, Novelli Giuseppe, Messina Sonia, Pane Marika, Mercuri Eugenio, Claustres Mireille, Tuffery-Giraud Sylvie, Aartsma-Rus Annemieke, Spitali Pietro, T'Hoen Peter A C, Lochmüller Hanns, Strandberg Kristin, Al-Khalili Cristina, Kotelnikova Ekaterina, Lebowitz Michael, Schwartz Elena, Muntoni Francesco, Scapoli Chiara, Ferlini Alessand Similar articles in PubMed
Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention. Current genomics 2019 Nov 20 (7): 519-530. Tyagi Rahul, Kumar Sumit, Dalal Ashwin, Mohammed Faruq, Mohanty Manju, Kaur Paramvir, Anand Aksh Similar articles in PubMed
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. Orphanet journal of rare diseases 2019 Nov 14 (1): 250. Xie Zhiying, Xie Zhihao, Yu Meng, Zheng Yiming, Sun Chengyue, Liu Yilin, Ling Chen, Zhu Ying, Zhang Wei, Xiao Jiangxi, Wang Zhaoxia, Yuan Y Similar articles in PubMed
Cardiopulmonary phenotypic discordance is common in Duchenne muscular dystrophy. Pediatric pulmonology 2019 Feb 54 (2): 186-193. Jin Justin B, Carter John C, Sheehan Daniel W, Birnkrant David Similar articles in PubMed
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1. Clinical genetics 2018 Sep . Mul Karlien, Voermans Nicol C, Lemmers Richard J L F, Jonker Marianne A, van der Vliet Patrick J, Padberg George W, van Engelen Baziel G M, van der Maarel Silvère M, Horlings Corinne G Similar articles in PubMed
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy. Neurology 2018 Aug . Thangarajh Mathula, Elfring Gary L, Trifillis Panayiota, McIntosh Joseph, Peltz Stuart W, Similar articles in PubMed
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Annals of neurology 2018 Jul . Weiss Robert B, Vieland Veronica J, Dunn Diane M, Kaminoh Yuuki, Flanigan Kevin M, Similar articles in PubMed
Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China. Chinese medical journal 2018 Apr 131 (7): 770-775. Zhao Hui-Hui, Sun Xue-Ping, Shi Ming-Chao, Yi Yong-Xiang, Cheng Hong, Wang Xing-Xia, Xu Qing-Cheng, Ma Hong-Ming, Wu Hao-Quan, Jin Qing-Wen, Niu Similar articles in PubMed
HLA Polymorphism Affects Risk of de novo Mutation of dystrophin Gene and Clinical Severity of Duchenne Muscular Dystrophy in a Southern Chinese Population. Frontiers in neurology 2018 9 970. Li Huan, Xiao Lulu, Wang Liang, Lin Jinfu, Luo Min, Chen Menglong, He Ruojie, Zhu Yuling, Zhang Che Similar articles in PubMed
Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene. Journal of human genetics 2017 Jul . Zimowski Janusz G, Pawelec Magdalena, Purzycka Joanna K, Szirkowiec Walentyna, Zaremba Jac Similar articles in PubMed
Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017 Mar . Colombo Paola, Nobile Maria, Tesei Alessandra, Civati Federica, Gandossini Sandra, Mani Elisa, Molteni Massimo, Bresolin Nereo, D'Angelo Graz Similar articles in PubMed
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy. Nature communications 2017 Jan 8 14143. Hogarth Marshall W, Houweling Peter J, Thomas Kristen C, Gordish-Dressman Heather, Bello Luca, , Pegoraro Elena, Hoffman Eric P, Head Stewart I, North Kathryn Similar articles in PubMed
Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 Dec . Cruz-Aguilar Marisa, Guerrero-de Ferran Caroline, Tovilla-Canales Jose Luis, Nava-Castañeda Angel, Zenteno Juan Similar articles in PubMed
?-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. Muscle & nerve 2016 Oct . Dalichaouche Imene, Sifi Yamina, Roudaut Carinne, Sifi Karima, Hamri Abdelmadjid, Rouabah Leila, Abadi Noureddine, Richard Isabel Similar articles in PubMed
Association Study of Exon Variants in the NF-?B and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. American journal of human genetics 2016 Oct . Bello Luca, Flanigan Kevin M, Weiss Robert B, , Spitali Pietro, Aartsma-Rus Annemieke, Muntoni Francesco, Zaharieva Irina, Ferlini Alessandra, Mercuri Eugenio, Tuffery-Giraud Sylvie, Claustres Mireille, Straub Volker, Lochmüller Hanns, Barp Andrea, Vianello Sara, Pegoraro Elena, Punetha Jaya, Gordish-Dressman Heather, Giri Mamta, McDonald Craig M, Hoffman Eric P, Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
[Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. Zhonghua yi xue za zhi 2016 Apr 96 (16): 1261-9. Bai Y, Li S, Zong Y N, Li X L, Zhao Z H, Kong X Similar articles in PubMed
[Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia]. Genetika 2016 Mar 52 (3): 376-84. Marusin A V, Kurtanov Kh A, Maksimova N R, Svarovskaya M G, Stepanov V Similar articles in PubMed
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. Journal of the neurological sciences 2016 Mar 362 304-8. Liang Wen-Chen, Chou Po-Ching, Hung Chia-Cheng, Su Yi-Ning, Kan Tsu-Min, Chen Wan-Zi, Hayashi Yukiko K, Nishino Ichizo, Jong Yuh-J Similar articles in PubMed
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. Neurology. Genetics 2015 Dec 1 (4): e36. Izumi Rumiko, Niihori Tetsuya, Takahashi Toshiaki, Suzuki Naoki, Tateyama Maki, Watanabe Chigusa, Sugie Kazuma, Nakanishi Hirotaka, Sobue Gen, Kato Masaaki, Warita Hitoshi, Aoki Yoko, Aoki Masas Similar articles in PubMed
"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 Similar articles in PubMed
Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy. Journal of neurosciences in rural practice 0 9 (3): 410-413. Mukherjee Soumava, Roy Manoj, Guha Gautam, Saha Shankar Pras Similar articles in PubMed
Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India. Journal of pediatric neurosciences 0 13 (2): 182-188. Kumari Preeti, Joshi Deepika, Shamal Satya N, Singh Roya Similar articles in PubMed

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