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Query Trace: Duchenne Muscular Dystrophy[original query] |
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Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. Pharmaceuticals (Basel, Switzerland) 2021 8 14 (8): . Pascual-Morena Carlos, Cavero-Redondo Iván, Saz-Lara Alicia, Sequí-Domínguez Irene, Lucerón-Lucas-Torres Maribel, Martínez-Vizcaíno Vicen |
Theragnosis for Duchenne Muscular Dystrophy. Frontiers in pharmacology 2021 6 12 648390. Luce Leonela, Carcione Micaela, Mazzanti Chiara, Buonfiglio Paula I, Dalamón Viviana, Mesa Lilia, Dubrovsky Alberto, Corderí José, Giliberto Florenc |
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, |
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing. Molecular genetics & genomic medicine 2021 5 9 (5): e1633. Shastry Arun, Aravind Sankaramoorthy, Sunil Meeta, Ramesh Keerthi, Ashley Berty, T Nithyanandan, Ramprasad Vedam L, Gupta Ravi, Seshagiri Somasekar, Nongthomba Upendra, Phalke Same |
Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy. Orphanet journal of rare diseases 2021 4 16 (1): 188. Zhang Shu, Qin Dongdong, Wu Liwen, Li Man, Song Lifang, Wei Cuijie, Lu Chunling, Zhang Xiaoli, Hong Siqi, Ma Mingming, Wu Shiwen, |
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort. Journal of neuromuscular diseases 2021 4 8 (4): 525-535. Nagabushana Divya, Polavarapu Kiran, Bardhan Mainak, Arunachal Gautham, Gunasekaran Swetha, Preethish-Kumar Veeramani, Anjanappa Ram Murthy, Thomas PriyaTreesa, Sadasivan Arun, Vengalil Seena, Nashi Saraswati, Chawla Tanushree, Warrier Manjusha, Keerthipriya Muddasu, Raju Sanita, Mohan Dhaarini, Nalini Atchayar |
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment. Neuromuscular disorders : NMD 2021 3 31 (4): 319-327. Battini R, Lenzi S, Lucibello S, Chieffo D, Moriconi F, Cristofani P, Bulgheroni S, Cumbo F, Pane M, Baranello G, Alfieri P, Astrea G, Cioni G, Vicari S, Mercuri |
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy. Journal of assisted reproduction and genetics 2021 3 38 (8): 1979-1986. Ren Yixin, Lian Ying, Yan Zhiqiang, Zhai Fan, Yang Ming, Zhu Xiaohui, Wang Yuqian, Nie Yanli, Guan Shuo, Kuo Ying, Huang Jin, Shi Xiaodan, Jia Jialin, Qiao Jie, Yan Liyi |
Altered visual processing in the mdx52 mouse model of Duchenne muscular dystrophy. Neurobiology of disease 2021 2 152 105288. Barboni Mirella Telles Salgueiro, Liber André Maurício Passos, Joachimsthaler Anneka, Saoudi Amel, Goyenvalle Aurélie, Rendon Alvaro, Roger Jérome E, Ventura Dora Fix, Kremers Jan, Vaillend Cyril |
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 |
Influence of ? Adrenergic Receptor Genotype on Longitudinal Measures of Left Ventricular Ejection Fraction and Responsiveness to ß-Blocker Therapy in Patients With Duchenne Muscular Dystrophy. Clinical Medicine Insights. Cardiology 2022 9 16 11795468221116838. Kelley Eli F, Cross Troy J, McDonald Craig M, Investigators Cinrg, Hoffman Eric P, Spurney Christopher F, Bello Lu |
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients. Genes 2022 8 13 (8): . Kosac Ana, Pesovic Jovan, Radenkovic Lana, Brkusanin Milos, Radovanovic Nemanja, Djurisic Marina, Radivojevic Danijela, Mladenovic Jelena, Ostojic Slavica, Kovacevic Gordana, Kravljanac Ruzica, Savic Pavicevic Dusanka, Milic Rasic Vedra |
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 |
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. Annals of neurology 2022 7 92 (5): 793-806. Poyatos-García Javier, Martí Pilar, Liquori Alessandro, Muelas Nuria, Pitarch Inmaculada, Martinez-Dolz Luis, Rodríguez Benjamin, Gonzalez-Quereda Lidia, Damiá Maria, Aller Elena, Selva-Gimenez Marta, Vilchez Roger, Diaz-Manera Jordi, Alonso-Pérez Jorge, Barcena José Eulalio, Jauregui Amaia, Gámez Josep, Aladrén Jesus Angel, Fernández Ariadna, Montolio Marisol, Azorin Inmaculada, Hervas David, Casasús Ana, Nieto Marisa, Gallano Pia, Sevilla Teresa, Vilchez Juan Jes |
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 669-673. Gao Zhi, Liu Lina, Wang Yanli, Wang Yanfei, Huang Wei, Kong Xiangdo |
Genetic modifiers of upper limb function in Duchenne muscular dystrophy. Journal of neurology 2022 5 269 (9): 4884-4894. Sabbatini Daniele, Fusto Aurora, Vianello Sara, Villa Matteo, Janik Joanna, D'Angelo Grazia, Diella Eleonora, Magri Francesca, Comi Giacomo P, Panicucci Chiara, Bruno Claudio, D'Amico Adele, Bertini Enrico, Astrea Guja, Battini Roberta, Politano Luisa, Masson Riccardo, Baranello Giovanni, Previtali Stefano C, Messina Sonia, Vita Gianluca, Berardinelli Angela, Mongini Tiziana, Pini Antonella, Pane Marika, Mercuri Eugenio, Hoffman Eric P, Morgenroth Lauren, Gordish-Dressman Heather, Duong Tina, McDonald Craig M, Bello Luca, Pegoraro Ele |
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy. BMC neurology 2022 5 22 (1): 162. Zamani Gholamreza, Hosseinpour Sareh, Ashrafi Mahmoud Reza, Mohammadi Mahmoud, Badv Reza Shervin, Tavasoli Ali Reza, Akbari Masood Ghahvechi, Bereshneh Ali Hosseini, Malamiri Reza Azizi, Heidari Morte |
Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India. Annals of Indian Academy of Neurology 2022 4 24 (6): 873-878. Goyal Manisha, Gupta Ashok, Agarwal Kamlesh, Kapoor Seema, Kumar Some |
Influence of ? adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy. Neuromuscular disorders : NMD 2022 2 32 (2): 150-158. Kelley Eli F, Cross Troy J, McDonald Craig M, Hoffman Eric P, Bello Lu |
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing. Journal of molecular neuroscience : MN 2022 2 72 (5): 1098-1107. Zamani Gholam Reza, Mohammadi Mohammad Farid, Tavasoli Ali Reza, Ashrafi Mahmoud Reza, Hosseinpour Sareh, Ghabeli Homa, Pourbakhtyaran Elham, Haghighi Roya, Hosseiny Seyyed Mohammad Mahdi, Mohammadi Pouria, Heidari Morte |
Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus. Annals of human biology 2022 12 1-6. Ibarra-Tapia Ingrid Yali, Juárez-Sandoval Ariadna, Pérez Itzel Torres, Cano-Martínez Luis Javier, Sánchez-García Sergio, Ruiz-Batalla Juana Marlen, Aroche-Reyes Irma Angélica, García Silvia, Canto Patricia, Mejía David-Rojano, Coral-Vázquez Ramón Mauric |
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 |
Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI. Neurology 2022 10 99 (21): e2406-e2416. Barnard Alison M, Hammers David W, Triplett William T, Kim Sarah, Forbes Sean C, Willcocks Rebecca J, Daniels Michael J, Senesac Claudia R, Lott Donovan J, Arpan Ishu, Rooney William D, Wang Richard T, Nelson Stanley F, Sweeney H Lee, Vandenborne Krista, Walter Glenn |
Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. Pediatric cardiology 2022 1 43 (4): 855-867. Gambetta Katheryn E, McCulloch Michael A, Lal Ashwin K, Knecht Kenneth, Butts Ryan J, Villa Chet R, Johnson Jonathan N, Conway Jennifer, Bock Matthew J, Schumacher Kurt R, Law Sabrina P, Friedland-Little Joshua M, Deshpande Shriprasad R, West Shawn C, Lytrivi Irene D, Wittlieb-Weber Carol |
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 |
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms. Orphanet journal of rare diseases 2023 6 18 (1): 137. Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zh |
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 |
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 |
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 2024 4 . Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan |
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:Apr 29, 2024
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