Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 268 Records) |
| Query Trace: Muscular dystrophy[original query] |
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| TCAP gene is not a common cause of cardiomyopathy in Iranian patients. European journal of medical research 2023 9 28 (1): 376. Zahra Alaei, Nasrin Zamani, Bahareh Rabbani, Nejat Mahdi |
| 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 |
| Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical genetics 2023 8 . Jana Zídková, Tereza Kramá?ová, Johana Kop?ilová, Kamila Réblová, Jana Haberlová, Radim Mazanec, Stanislav Vohá?ka, Andrea G?ego?ová, Martina Langová, Tomáš Honzík, Jana Šoukalová, Hana Ošlejšková, Pavla Sola?ová, Emílie Vyhnálková, Lenka Fajkuso |
| 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 |
| Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report. Frontiers in neurology 2023 5 14 1183147. Ana Karina Zambrano, Elius Paz-Cruz, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A Ruiz-Pozo, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ricardo Hidal |
| The clinical features and TCAP mutation Spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. Human molecular genetics 2023 5 . Xiaoqing Lv, Feng Lin, Wenjing Wu, Hui Wang, Yuebei Luo, Zhiqiang Wang, Chuanzhu Yan, He Lv, Sushan Luo, Pengfei L |
| Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients. Frontiers in neurology 2023 5 14 1158094. Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Lin Ge, Jieyu Liu, Juan Ding, Haipo Yang, Cuijie Wei, Xingzhi Chang, Yun Yuan, Chuanzhu Yan, Hui Xio |
| 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 |
| Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort. Brain : a journal of neurology 2023 3 . de Bruyn Alexander, Montagnese Federica, Holm-Yildiz Sonja, Poulsen Nanna Scharff, Stojkovic Tanya, Behin Anthony, Palmio Johanna, Jokela Manu, De Bleecker Jan L, de Visser Marianne, van der Kooi Anneke J, Ten Dam Leroy, Domínguez González Cristina, Maggi Lorenzo, Gallone Annamaria, Kostera-Pruszczyk Anna, Macias Anna, ?usakowska Anna, Nedkova Velina, Olive Montse, Álvarez-Velasco Rodrigo, Wanschitz Julia, Paradas Carmen, Mavillard Fabiola, Querin Giorgia, Fernández-Eulate Gorka, Quinlivan Ros, Walter Maggie C, Depuydt Christophe E, Udd Bjarne, Vissing John, Schoser Benedikt, Claeys Kristl |
| 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 |
| 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 |
| Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. Neurology. Genetics 2023 11 9 (6): e200107. Naga M Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Heg |
| 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 |
| Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. Orphanet journal of rare diseases 2023 11 18 (1): 356. Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-Ze Zheng, Liang-Liang Qiu, Zhi-Xian Ye, Hai-Zhu Chen, Min-Ting Lin, Ning Wang, Zhi-Qiang Wa |
| The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients. Muscle & nerve 2024 9 . Alexander Zygmunt, Brenda Wong, David Moon, Paul Horn, Richard Rathbun, Joshua Lambert, Jean Bange, Irina Rybalsky, Lisa Reebals, Cuixia Ti |
| Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. Postepy psychiatrii neurologii 2024 8 33 (2): 109-114. Wiktoria Radziwonik-Fr?czyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona St?pniak, Marta Lipowska, Anna Potulska-Chromik, Anna Su? |
| Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology(R) neuroimmunology & neuroinflammation 2024 8 11 (5): e200285. Laura Llansó, Alba Segarra-Casas, Cristina Domínguez-González, Edoardo Malfatti, Solange Kapetanovic, Benjamín Rodríguez-Santiago, Oscar de la Calle, Rosa Blanco, Amelia Dobrescu, Andrés Nascimento-Osorio, Andrés Paipa, Aurelio Hernandez-Lain, Cristina Jou, Anaís Mariscal, Laura González-Mera, Ana Arteche, Cinta Lleixà, Marta Caballero-Ávila, Álvaro Carbayo, Ana Vesperinas, Luis Querol, Eduard Gallardo, Montse Oli |
| An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. International journal of molecular sciences 2024 7 25 (14): . Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Tö |
| Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation: Post Hoc Analysis of the FOR-DMD Trial. Neurology 2024 5 102 (10): e209206. Marianela Schiava, Michael P McDermott, Jonathan Broomfield, Keith R Abrams, Anna G Mayhew, Craig M McDonald, William B Martens, Stephanie J Gregory, Robert C Griggs, Michela Guglieri, |
| [Expert consensus on the genetic counseling for Dystrophinopathies]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 5 41 (6): 651-660. Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening, Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association, Medical Genetics Branch Of Chinese Medical Doctor Association, Genetic Diagnosis And Precision Medicine Branch Of The Chinese Association Of Birth Health And Science, Xiaoliang Liu, Yanyan Zhao, Hua Wang, Jesse Li-Ling, Lingqian Wu, Yanping Lu, Qingxian Cha |
| A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. Turkish journal of medical sciences 2024 5 54 (1): 86-98. ?zem Olcay ?ahin, Emine Karata?, Mikail Demir, Bü?ra Tan, Hüseyin Per, Yusuf Özkul, Munis Dünd |
| [R577X polymorphisms of the ACTN3 gene and Duchenne muscular dystrophy]. Andes pediatrica : revista Chilena de pediatria 2024 5 95 (2): 215-217. Ángel Roco-Videla, Raúl Aguilera Egu |
| Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders. Neurogenetics 2024 5 . Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Jolanta Kubalska, Dominika Szczesniak, Iwona Stepniak, Jacek Zaremba, Anna Sul |
| Differential expression of DMD transcripts as a novel prognostic biomarker in histologically diverse mesotheliomas. Translational lung cancer research 2024 5 13 (4): 733-748. Nancy Alnassar, Jonathan M J Derry, Giuseppe Luigi Banna, Dariusz C Gorec |
| Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. Journal of neuromuscular diseases 2024 4 . E Landfeldt, A Alemán, S Abner, R Zhang, C Werner, I Tomazos, N Ferizovic, H Lochmüller, J Kirschn |
| 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 |
| Clinical and Molecular Profile of Duchenne Muscular Dystrophy (DMD): Case-Record Analysis From Uttar Pradesh, India. Indian pediatrics 2024 10 . Ankur Singh, Minketan Sidar, Akhtar Ali, Abhishek Abhinay, Rajniti Prasad, Om Prakash Mish |
| 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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