Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: POMT1[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 |
Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread. Neuropathology : official journal of the Japanese Society of Neuropathology 2009 Apr 29 (2): 116-24. Snoei Julia, Urbach Horst, Engels Gudrun, Fassunke Jana, von Lehe Marec, Becker Albert J, Majores Micha |
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 |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PloS one 2017 9 12 (9): e0185103. González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr |
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 |
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 |
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia. Investigative ophthalmology & visual science 2018 1 59 (1): 338-348. Flitcroft D Ian, Loughman James, Wildsoet Christine F, Williams Cathy, Guggenheim Jeremy A, |
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing. BMC medical genomics 2019 1 12 (1): 28. Wang Pu, Wang Yibei, Fan Xinmiao, Liu Yaping, Fan Yue, Liu Tao, Chen Chongjian, Zhang Shuyang, Chen Xiaow |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
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 |
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 |
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- Page last updated:Apr 22, 2024
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