Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 246 Records) |
| Query Trace: Muscular dystrophy[original query] |
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| 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 |
| Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant ?-Dystroglycan Pattern. International journal of molecular sciences 2022 6 23 (12): . Gaertner Anna, Burr Lidia, Klauke Baerbel, Brodehl Andreas, Laser Kai Thorsten, Klingel Karin, Tiesmeier Jens, Schulz Uwe, Knyphausen Edzard Zu, Gummert Jan, Milting Hendr |
| Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. Annals of clinical and translational neurology 2022 6 9 (8): 1302-1309. Bruels Christine C, Littel Hannah R, Daugherty Audrey L, Stafki Seth, Estrella Elicia A, McGaughy Emily S, Truong Don, Badalamenti Jonathan P, Pais Lynn, Ganesh Vijay S, O'Donnell-Luria Anne, Stalker Heather J, Wang Yang, Collins Christin, Behlmann Andrea, Lemmers Richard J L F, van der Maarel Silvère M, Laine Regina, Ghosh Partha S, Darras Basil T, Zingariello Carla D, Pacak Christina A, Kunkel Louis M, Kang Peter |
| Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. European journal of medical genetics 2022 6 65 (8): 104537. Marais Anett, Bertoli-Avella Aida M, Beetz Christian, Altunoglu Umut, Alhashem Amal, Mohamed Sarar, Alghamdi Abdulaziz, Willems Patrick, Tsoutsou Eirini, Fryssira Helena, Pons Roser, Almarzooq Reem, Karatoprak Elif Yüksel, Ayaz Akif, Ünverengil Gökçen, Calvo Maria, Yüksel Zafer, Bauer Pet |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clinical genetics 2022 10 103 (2): 242-246. Pini Sara, Napoli Floriana Maria, Tagliafico Enrico, La Marca Antonio, Bertucci Emma, Salsi Valentina, Tupler Rossel |
| 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 |
| 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 |
| Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India. Iranian journal of child neurology 2023 2 17 (1): 29-37. Sattenapalli Nigama Chandra, Areti Anka Rao, Koteswara Rao Siva Naga, Alavala Rajasekhar Reddy, Kulandaivelu Uma Sank |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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