Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: FKRP[original query] |
---|
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 |
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscular disorders : NMD 2008 Jul 18 (7): 565-71. Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C P, Uggetti C, Santorelli F M, Bertini E, Mercuri |
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 |
[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2010 Dec 42 (6): 661-6. Zhang Yan-zhi, Xiong Hui, Wang Xiao-zhu, Wang Shuo, Luo Jing, Wang Jing-min, Jiang Yu-wu, Chang Xing-zhi, Pan Hong, Qi Jian-guang, Li Wan-zhen, Yuan Yun, Wu Xi- |
Evidence-based path to newborn screening for Duchenne muscular dystrophy. Annals of neurology 2012 Mar 71 (3): 3. Mendell JR, Shilling C, Leslie ND, Flanigan KM, Al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len |
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC neurology 2015 15 (1): 172. Magri Francesca, Colombo Irene, Del Bo Roberto, Previtali Stefano, Brusa Roberta, Ciscato Patrizia, Scarlato Marina, Ronchi Dario, D'Angelo Maria Grazia, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Piet |
Illness-associated muscle weakness in dystroglycanopathies. Neurology 2017 11 89 (23): 2374-2380. Carlson Courtney R, McGaughey Steven D, Eskuri Jamie M, Stephan Carrie M, Zimmerman M Bridget, Mathews Katherine |
A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2017 1 107 (1): 80-82. Mudau M M, Essop F, Krause |
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal muscle 2018 8 8 (1): 23. Johnson Katherine, Bertoli Marta, Phillips Lauren, Töpf Ana, Van den Bergh Peter, Vissing John, Witting Nanna, Nafissi Shahriar, Jamal-Omidi Shirin, ?usakowska Anna, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Deconinck Nicolas, Wallgren-Pettersson Carina, Strang-Karlsson Sonja, Colomer Jaume, Claeys Kristl G, De Ridder Willem, Baets Jonathan, von der Hagen Maja, Fernández-Torrón Roberto, Zulaica Ijurco Miren, Espinal Valencia Juan Bautista, Hahn Andreas, Durmus Hacer, Willis Tracey, Xu Liwen, Valkanas Elise, Mullen Thomas E, Lek Monkol, MacArthur Daniel G, Straub Volk |
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants. Human mutation 2019 7 40 (10): 1874-1885. Henriques Sara F, Gicquel Evelyne, Marsolier Justine, Richard Isabel |
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 |
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 |
Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up. Neurology 2020 8 95 (15): e2131-e2139. Gedlinske Amber M, Stephan Carrie M, Mockler Shelley R H, Laubscher Katie M, Laubenthal Karla S, Crockett Cameron D, Zimmerman M Bridget, Mathews Katherine |
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 |
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 |
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 |
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 |
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 |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 2024 1 . Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: