Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 46 Records) |
Query Trace: Limb-girdle Muscular Dystrophy[original query] |
---|
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 |
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 |
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 |
Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. Frontiers in neuroscience 2018 6 12 329. Lu Yan, Da Yu-Wei, Zhang Yong-Biao, Li Xin-Gang, Wang Min, Di Li, Pang Mi, Lei L |
Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018 5 36 (4): 207-212. Sivitskaya Larysa N, Danilenko Nina G, Vaikhanskaya Tatiyana G, Kurushka Tatsiyana V, Davydenko Oleg |
Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort. Neuromuscular disorders : NMD 2018 10 28 (12): 986-995. Luce Leonela N, Carcione Micaela, Mazzanti Chiara, Ferrer Marcela, Szijan Irene, Giliberto Florenc |
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy. Neuromuscular disorders : NMD 2019 7 29 (8): 628-633. Cai Shuang, Gao Mingshi, Xi Jianying, Liu Zhuo, Yue Dongyue, Wu Hui, Bi Haixia, Li Jing, Liang Zonghui, Zhao Chongbo, Udd Bjarne, Luo Sushan, Lu Jiaho |
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clinical genetics 2019 3 96 (2): 126-133. Ten Dam Leroy, Frankhuizen Wendy S, Linssen Wim H J P, Straathof Chiara S, Niks Erik H, Faber Karin, Fock Annemarie, Kuks Jan B, Brusse Esther, de Coo René, Voermans Nicol, Verrips Aad, Hoogendijk Jessica E, van der Pol Ludo, Westra Dineke, de Visser Marianne, van der Kooi Anneke J, Ginjaar Ie |
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. Orphanet journal of rare diseases 2019 2 14 (1): 43. Xie Zhiying, Hou Yue, Yu Meng, Liu Yilin, Fan Yanbin, Zhang Wei, Wang Zhaoxia, Xiong Hui, Yuan Y |
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2019 12 38 (3): 163-171. Peric Stojan, Stevanovic Jelena, Johnson Katherine, Kosac Ana, Peric Marina, Brankovic Marija, Marjanovic Ana, Jankovic Milena, Banko Bojan, Milenkovic Sanja, Durdic Milica, Bozovic Ivo, Glumac Jelena Nikodinovic, Lavrnic Dragana, Maksimovic Ruzica, Milic-Rasic Vedrana, Rakocevic-Stojanovic Vidosa |
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 |
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing. Genes 2019 11 10 (11): . Alcántara-Ortigoza Miguel Angel, Reyna-Fabián Miriam Erandi, González-Del Angel Ariadna, Estandia-Ortega Bernardette, Bermúdez-López Cesárea, Cruz-Miranda Gabriela Marisol, Ruíz-García Matil |
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective. Journal of medical genetics 2020 9 58 (11): 729-736. Zhong Huahua, Zheng Yiming, Zhao Zhe, Lin Pengfei, Xi Jianying, Zhu Wenhua, Lin Jie, Lu Jun, Yu Meng, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Yuan Yun, Luo Sush |
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet journal of rare diseases 2020 6 15 (1): 160. Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua, Wang Chen-Hua, Tian Xia, Chen Wan-Zi, Kan Tzu-Min, Minami Narihiro, Nishino Ichizo, Wong Lee-Jun |
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients. Journal of medical genetics 2020 6 58 (5): 326-333. Fan Yanbin, Tan Dandan, Song Danyu, Zhang Xu, Chang Xingzhi, Wang Zhaoxia, Zhang Cheng, Chan Sophelia Hoi-Shan, Wu Qixi, Wu Liwen, Wang Shuang, Yan Hui, Ge Lin, Yang Haipo, Mao Bing, Bönnemann Carsten, Liu Jingying, Wang Suxia, Yuan Yun, Wu Xiru, Zhang Hong, Xiong H |
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 |
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 2020 11 99 (3): 384-395. Song Danyu, Dai Yi, Chen Xiaoyu, Fu Xiaona, Chang Xingzhi, Wang Ning, Zhang Cheng, Yan Chuanzhu, Zheng Hong, Wu Liwen, Jiang Li, Hua Ying, Yang Haipo, Wang Zhiqiang, Dai Tingjun, Zhu Wenhua, Han Chunxi, Yuan Yun, Kobayashi Kazuhiro, Toda Tatsushi, Xiong H |
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021 9 92 215-221. Awano Hiroyuki, Saito Yoshihiko, Shimizu Mamiko, Sekiguchi Kenji, Niijima Shinichi, Matsuo Masafumi, Maegaki Yoshihiro, Izumi Isho, Kikuchi Chiya, Ishibashi Masato, Okazaki Tetsuya, Komaki Hirofumi, Iijima Kazumoto, Nishino Ichi |
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort. Orphanet journal of rare diseases 2021 7 16 (1): 319. Tan Dandan, Ge Lin, Fan Yanbin, Chang Xingzhi, Wang Shuang, Wei Cuijie, Ding Juan, Liu Aijie, Wang Shuo, Li Xueying, Gao Kai, Yang Haipo, Que Chengli, Huang Zhen, Li Chunde, Zhu Ying, Mao Bing, Jin Bo, Hua Ying, Zhang Xiaoli, Zhang Bingbing, Zhu Wenhua, Zhang Cheng, Wang Yanjuan, Yuan Yun, Jiang Yuwu, Rutkowski Anne, Bönnemann Carsten G, Wu Xiru, Xiong H |
Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients. Frontiers in neuroscience 2021 11 15 692482. Macias Anna, Fichna Jakub Piotr, Topolewska Malgorzata, R?dowicz Maria J, Kaminska Anna M, Kostera-Pruszczyk An |
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. Journal of neuromuscular diseases 2021 1 8 (2): 261-272. Ten Dam L, de Visser M, Ginjaar Ieke B, van Duyvenvoorde Hermine A, van Koningsbruggen Silvana, van der Kooi Anneke |
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India. Global medical genetics 2022 2 9 (1): 34-41. Ganaraja Valakunja H, Polavarapu Kiran, Bardhan Mainak, Preethish-Kumar Veeramani, Leena Shingavi, Anjanappa Ram M, Vengalil Seena, Nashi Saraswati, Arunachal Gautham, Gunasekaran Swetha, Mohan Dhaarini, Raju Sanita, Unnikrishnan Gopikrishnan, Huddar Akshata, Ravi-Kiran Valasani, Thomas Priya T, Nalini Atchayar |
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Neuromuscular disorders : NMD 2022 12 33 (2): 119-132. Jensen Synnøve M, Müller Kai Ivar, Mellgren Svein Ivar, Bindoff Laurence A, Rasmussen Magnhild, Ørstavik Kristin, Jonsrud Christoffer, Tveten Kristian, Nilssen Øivind, Van Ghelue Marijke, Arntzen Kjell Ar |
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 |
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 |
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 |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: