Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Muscular Dystrophies and LARGE[original query] |
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| Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain : a journal of neurology 2007 Oct 130 (Pt 10): 2725-35. Godfrey Caroline, Clement Emma, Mein Rachael, Brockington Martin, Smith Janine, Talim Beril, Straub Volker, Robb Stephanie, Quinlivan Ros, Feng Lucy, Jimenez-Mallebrera Cecilia, Mercuri Eugenio, Manzur Adnan Y, Kinali Maria, Torelli Silvia, Brown Susan C, Sewry Caroline A, Bushby Kate, Topaloglu Haluk, North Kathryn, Abbs Stephen, Muntoni Frances |
| Candidate-gene testing for orphan limb-girdle muscular dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008 Dec 27 90-7. Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M, Totaro A, Belsito A, Di Vicino U, Nigro |
| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009 May 72 (21): 1802-9. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi G P, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C P, Uggetti C, Vasco G, Santorelli F M, Bertini |
| DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics 2015 Aug 60 (8): 435-42. Guo Ruolan, Zhu Guosheng, Zhu Huimin, Ma Ruiyu, Peng Ying, Liang Desheng, Wu Lingqi |
| Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscular disorders : NMD 2015 Jul 25 (7): 533-41. Savarese Marco, Di Fruscio Giuseppina, Tasca Giorgio, Ruggiero Lucia, Janssens Sandra, De Bleecker Jan, Delpech Marc, Musumeci Olimpia, Toscano Antonio, Angelini Corrado, Sacconi Sabrina, Santoro Lucio, Ricci Enzo, Claes Kathleen, Politano Luisa, Nigro Vincen |
| MRI in sarcoglycanopathies: a large international cohort study. Journal of neurology, neurosurgery, and psychiatry 2017 9 89 (1): 72-77. Tasca Giorgio, Monforte Mauro, Díaz-Manera Jordi, Brisca Giacomo, Semplicini Claudio, D'Amico Adele, Fattori Fabiana, Pichiecchio Anna, Berardinelli Angela, Maggi Lorenzo, Maccagnano Elio, Løkken Nicoline, Marini-Bettolo Chiara, Munell Francina, Sanchez Angel, Alshaikh Nahla, Voermans Nicol C, Dastgir Jahannaz, Vlodavets Dmitry, Haberlová Jana, Magnano Gianmichele, Walter Maggie C, Quijano-Roy Susana, Carlier Robert-Yves, van Engelen Baziel G M, Vissing John, Straub Volker, Bönnemann Carsten G, Mercuri Eugenio, Muntoni Francesco, Pegoraro Elena, Bertini Enrico, Udd Bjarne, Ricci Enzo, Bruno Claud |
| Genetic profile of Brazilian patients with dystrophinopathies. Clinical genetics 2017 1 92 (2): 199-203. de Almeida P A D, Machado-Costa M C, Manzoli G N, Ferreira L S, Rodrigues M C S, Bueno L S M, Saute J A M, Pinto Vairo F, Matte U S, Siebert M, Cossio S L, Macedo G S, Winckler P B, Becker M M, Magalhães L V B, Gonçalves M V M, Marrone C D, Nucci A, França M |
| A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. The Journal of molecular diagnostics : JMD 2018 5 20 (4): 533-549. Zenagui Reda, Lacourt Delphine, Pegeot Henri, Yauy Kevin, Juntas Morales Raul, Theze Corine, Rivier François, Cances Claude, Sole Guilhem, Renard Dimitri, Walther-Louvier Ulrike, Ferrer-Monasterio Xavier, Espil Caroline, Arné-Bes Marie-Christine, Cintas Pascal, Uro-Coste Emmanuelle, Martin Negrier Marie-Laure, Rigau Valérie, Bieth Eric, Goizet Cyril, Claustres Mireille, Koenig Michel, Cossée Mireil |
| Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian pediatrics 2019 7 56 (7): 556-559. Tallapaka Karthik, Ranganath Prajnya, Ramachandran Angalena, Uppin Megha S, Perala Sreeja, Aggarwal Shagun, Lakshmi Dhanya, Meena A K, Dalal Ashwin |
| New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain : a journal of neurology 2020 9 143 (9): 2696-2708. Alonso-Pérez Jorge, González-Quereda Lidia, Bello Luca, Guglieri Michela, Straub Volker, Gallano Pia, Semplicini Claudio, Pegoraro Elena, Zangaro Vittoria, Nascimento Andrés, Ortez Carlos, Comi Giacomo Pietro, Dam Leroy Ten, De Visser Marianne, van der Kooi A J, Garrido Cristina, Santos Manuela, Schara Ulrike, Gangfuß Andrea, Løkken Nicoline, Storgaard Jesper Helbo, Vissing John, Schoser Benedikt, Dekomien Gabriele, Udd Bjarne, Palmio Johanna, D'Amico Adele, Politano Luisa, Nigro Vincenzo, Bruno Claudio, Panicucci Chiara, Sarkozy Anna, Abdel-Mannan Omar, Alonso-Jimenez Alicia, Claeys Kristl G, Gomez-Andrés David, Munell Francina, Costa-Comellas Laura, Haberlová Jana, Rohlenová Marie, Elke De Vos, De Bleecker Jan L, Dominguez-González Cristina, Tasca Giorgio, Weiss Claudia, Deconinck Nicolas, Fernández-Torrón Roberto, López de Munain Adolfo, Camacho-Salas Ana, Melegh Béla, Hadzsiev Kinga, Leonardis Lea, Koritnik Blaz, Garibaldi Matteo, de Leon-Hernández Juan Carlos, Malfatti Edoardo, Fraga-Bau Arturo, Richard Isabelle, Illa Isabel, Díaz-Manera Jor |
| 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 |
| Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 2020 5 30 (6): 457-471. Abdel Aleem Alice, Elsaid Mahmoud F, Chalhoub Nader, Chakroun Almahdi, Mohamed Khalid A S, AlShami Rana, Kuzu Omer, Mohamed Reem B, Ibrahim Khalid, AlMudheki Noora, Osman Omar, Ross M Elizabeth, ELalamy Osa |
| Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes 2020 5 11 (5): . Gonzalez-Quereda Lidia, Rodriguez Maria Jose, Diaz-Manera Jordi, Alonso-Perez Jorge, Gallardo Eduard, Nascimento Andres, Ortez Carlos, Natera-de Benito Daniel, Olive Montse, Gonzalez-Mera Laura, Munain Adolfo Lopez de, Zulaica Miren, Poza Juan Jose, Jerico Ivonne, Torne Laura, Riera Pau, Milisenda Jose, Sanchez Aurora, Garrabou Gloria, Llano Isabel, Madruga-Garrido Marcos, Gallano P |
| 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 |
| Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. Orphanet journal of rare diseases 2020 1 15 (1): 14. Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro |
| 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 |
| Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing. Frontiers in genetics 2021 12 12 770350. Patel Komal M, Bhatt Arpan D, Shah Krati, Waghela Bhargav N, Pandit Ramesh J, Sheth Harsh, Joshi Chaitanya G, Joshi Madhvi |
| Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation. Neuromuscular disorders : NMD 2021 10 31 (11): 1169-1178. Shelton G Diane, Minor Katie M, Guo Ling T, Friedenberg Steven G, Cullen Jonah N, Hord Jeffrey M, Venzke David, Anderson Mary E, Devereaux Megan, Prouty Sally J, Handelman Caryl, Campbell Kevin P, Mickelson James |
| Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy. The application of clinical genetics 2021 10 14 399-408. Triana-Fonseca Paula, Parada-Márquez Juan Fernando, Silva-Aldana Claudia T, Zambrano-Arenas Daniela, Arias-Gomez Laura Lucia, Morales-Fonseca Natalia, Medina-Méndez Esteban, Restrepo Carlos M, Silgado-Guzmán Daniel Felipe, Fonseca-Mendoza Dora Jane |
| Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 2022 12 24 (1): 43-53. Nashi Saraswati, Polavarapu Kiran, Bardhan Mainak, Anjanappa Ram Murthy, Preethish-Kumar Veeramani, Vengalil Seena, Padmanabha Hansashree, Geetha Thenral S, Prathyusha P V, Ramprasad Vedam, Joshi Aditi, Chawla Tanushree, Unnikrishnan Gopikirshnan, Sharma Pooja, Huddar Akshata, Uppilli Bharathram, Thomas Abel, Baskar Dipti, Mathew Susi, Menon Deepak, Arunachal Gautham, Faruq Mohammed, Thangaraj Kumarasamy, Nalini Atchayar |
| 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 |
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