Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Becker Muscular Dystrophy[original query] |
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Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Jun . Zamani Gholam Reza, Karami Fatemeh, Mehdizadeh Mahshid, Movafagh Abolfazl, Nilipour Yalda, Zamani Mah |
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples. Muscle & nerve 2015 Apr . Straathof Chiara S M, Van Heusden Dave, Ippel Pieternella F, Post Jan G, Voermans Nicol C, De Visser Marianne, Brusse Esther, Van Den Bergen Janneke C, Van Der Kooi Anneke J, Verschuuren Jan J G M, Ginjaar Hendrika |
Exon deletion pattern in duchene muscular dystrophy in north west of iran. Iranian journal of child neurology 2015 9 (1): 42-8. Barzegar Mohammad, Habibi Parinaz, Bonyady Mortaza, Topchizadeh Vahideh, Shiva Sha |
Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity. Neuromuscular disorders : NMD 2015 Mar 25 (3): 231-7. van den Bergen J C, Wokke B H A, Hulsker M A, Verschuuren J J G M, Aartsma-Rus A |
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms. Molecular genetics & genomic medicine 2014 Nov 2 (6): 539-47. Baskin Berivan, Stavropoulos Dimitri J, Rebeiro Paige A, Orr Jennifer, Li Martin, Steele Leslie, Marshall Christian R, Lemire Edmond G, Boycott Kym M, Gibson William, Ray Peter |
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 |
[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 |
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics 2017 9 62 (10): 931-933. Okubo Mariko, Minami Narihiro, Goto Kanako, Goto Yuichi, Noguchi Satoru, Mitsuhashi Satomi, Nishino Ichi |
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 |
Illness-associated muscle weakness in dystroglycanopathies. Neurology 2017 11 89 (23): 2374-2380. Carlson Courtney R, McGaughey Steven D, Eskuri Jamie M, Stephan Carrie M, Zimmerman M Bridget, Mathews Katherine |
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. Journal of clinical neurology (Seoul, Korea) 2017 1 13 (1): 91-97. Vengalil Seena, Preethish-Kumar Veeramani, Polavarapu Kiran, Mahadevappa Manjunath, Sekar Deepha, Purushottam Meera, Thomas Priya Treesa, Nashi Saraswathi, Nalini Atchayar |
Copy number variation analysis increases the diagnostic yield in muscle diseases. Neurology. Genetics 2018 9 3 (6): e204. Välipakka Salla, Savarese Marco, Johari Mridul, Sagath Lydia, Arumilli Meharji, Kiiski Kirsi, Sáenz Amets, de Munain Adolfo Lopez, Cobo Ana-Maria, Pelin Katarina, Udd Bjarne, Hackman Pet |
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 |
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation. Journal of neuromuscular diseases 2018 4 5 (2): 193-203. Mori-Yoshimura Madoka, Mitsuhashi Satomi, Nakamura Harumasa, Komaki Hirofumi, Goto Kanako, Yonemoto Naohiro, Takeuchi Fumi, Hayashi Yukiko K, Murata Miho, Takahashi Yuji, Nishino Ichizo, Takeda Shin'ichi, Kimura |
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 |
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. Frontiers in genetics 2019 3 10 114. Wang Liang, Xu Min, Li Huan, He Ruojie, Lin Jinfu, Zhang Cheng, Zhu Yuli |
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy. Indian journal of pediatrics 2020 5 87 (7): 495-504. Kohli Sudha, Saxena Renu, Thomas Elizabeth, Singh Kuldeep, Bijarnia Mahay Sunita, Puri Ratna Dua, Verma Ishwar Chand |
Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort. Frontiers in neurology 2021 8 12 714677. Lin Jinfu, Li Huan, Liao Ziyu, Wang Liang, Zhang Che |
Two novel RNA-binding proteins identification through computational prediction and experimental validation. Genomics 2021 12 114 (1): 149-160. Xie Juan, Zhang Xiaoli, Zheng Jinfang, Hong Xu, Tong Xiaoxue, Liu Xudong, Xue Yaqiang, Wang Xuelian, Zhang Yi, Liu Shiyo |
Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns. Neurology India 2022 9 70 (4): 1615-1617. Dama Tavisha, Chheda Pratiksha, Limaye Shweta, Pande Shailesh, Vinarkar Susha |
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients. Neuromuscular disorders : NMD 2022 8 32 (9): 736-742. Cumbo Francesca, Tosi Michele, Catteruccia Michela, Diodato Daria, Nicita Francesco, Capitello Teresa Grimaldi, Alfieri Paolo, Vicari Stefano, Bertini Enrico, D'Amico Ade |
[Genetic analysis of a Chinese pedigree affected with Becker muscular dystrophy with myalgia as the main feature]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 4 39 (4): 383-386. Xie Dan, Huang Hongyan, Xu Yanmi |
Serum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Becker muscular dystrophies. Muscle & nerve 2022 Feb . Yamaguchi Hiroshi, Awano Hiroyuki, Yamamoto Tetsushi, Nambu Yoshinori, Iijima Kazumo |
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations. Frontiers in neuroscience 2022 11 16 992546. Gan Siyi, Liu Shulei, Yang Haiyan, Wu Liw |
Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International journal of molecular sciences 2022 11 23 (21): . Zinina Elena, Bulakh Maria, Chukhrova Alena, Ryzhkova Oksana, Sparber Peter, Shchagina Olga, Polyakov Aleksander, Kutsev Serg |
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy. Neuromuscular disorders : NMD 2023 9 . Chang Liu, Jiajian Ma, Yanyu Lu, Yunlong Lu, Jiahui Mai, Li Bai, Yikang Wang, Yilei Zheng, Meng Yu, Yiming Zheng, Jianwen Deng, Lingchao Meng, Wei Zhang, Zhaoxia Wang, Yun Yuan, Zhiying X |
Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified. eNeurologicalSci 2023 2 30 100446. Bakhshandeh MohammadKazem, Behroozi Sami |
Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy. The journal of applied laboratory medicine 2023 2 . Buitrago Tatiana, García-Acero Mary, Guerra-Torres Mariana, Pineda Tatiana, Gámez Tatiana, Suárez-Obando Fernando, García-Robles Reggie, Ayala-Ramírez Pao |
Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients. F1000Research 2023 11 11 148. Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San L |
Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting. European journal of medical research 2024 1 29 (1): 37. Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Roshan Liyanage, Dhammika Amaratunga, Yetrib Hathout, Harry W M Steinbusch, Ashwin Dalal, Eric P Hoffman, K Ranil D de Sil |
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- Page last updated:May 13, 2024
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