HuGE Literature Finder
Records 1-30
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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 |
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The ACTN3 577XX null genotype is associated with low left ventricular dilation-free survival rate in patients with Duchenne muscular dystrophy: ACTN3 genotype relates cardiomyopathy in DMD.
Journal of cardiac failure 2020 Aug . Nagai Masashi, Awano Hiroyuki, Yamamoto Tetsushi, Bo Ryosuke, Matsuo Masafumi, Iijima Kazumo |
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[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 |
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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 |
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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 |
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Repurposing Pathogenic Variants of
Current genomics 2019 Nov 20 (7): 519-530. Tyagi Rahul, Kumar Sumit, Dalal Ashwin, Mohammed Faruq, Mohanty Manju, Kaur Paramvir, Anand Aksh |
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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 |
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurology 2019 Mar 85 (3): 316-330. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
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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 |
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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 |
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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, |
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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, |
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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 |
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HLA Polymorphism Affects Risk of
Frontiers in neurology 2018 9 970. Li Huan, Xiao Lulu, Wang Liang, Lin Jinfu, Luo Min, Chen Menglong, He Ruojie, Zhu Yuling, Zhang Che |
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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 |
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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 |
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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 |
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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 |
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?-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 |
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Association Study of Exon Variants in the NF-?B and TGF? 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, |
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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 |
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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 |
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[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 |
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[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 |
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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 |
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Genotype-Specific Interaction of Latent TGF? Binding Protein 4 with TGF?.
PloS one 2016 11 (2): e0150358. Lamar Kay-Marie, Miller Tamari, Dellefave-Castillo Lisa, McNally Elizabeth |
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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 |
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"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 |
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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 |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Feb 24, 2021
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