Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: POMT2[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 |
Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease. American journal of neurodegenerative disease 2012 1 (2): 191-8. Rosenthal Samantha L, Wang Xingbin, Demirci F Yesim, Barmada Michael M, Ganguli Mary, Lopez Oscar L, Kamboh M Ily |
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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: