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Journal Abstract Search

276 related items for PubMed ID: 28157257

  • 21. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
    Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
    Eur J Hum Genet; 2012 Dec; 20(12):1234-9. PubMed ID: 22549409
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  • 23. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
    Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H.
    Neuromuscul Disord; 2014 Nov; 24(11):990-2. PubMed ID: 25088310
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  • 24. [Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
    Chen C, Mei S, Zhu C, Ren Y, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb 10; 35(1):78-80. PubMed ID: 29419866
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  • 25. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
    Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG.
    Am J Hum Genet; 2002 Nov 10; 71(5):1033-43. PubMed ID: 12369018
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  • 27. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
    Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H.
    Clin Genet; 2021 Mar 10; 99(3):384-395. PubMed ID: 33200426
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  • 29. Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
    Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J.
    Muscle Nerve; 2012 May 10; 45(5):752-5. PubMed ID: 22499106
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  • 30. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.
    Ann Neurol; 2012 Oct 10; 72(4):550-8. PubMed ID: 23109149
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  • 33. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
    van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.
    J Med Genet; 2005 Dec 10; 42(12):907-12. PubMed ID: 15894594
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  • 35. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
    Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L, Banerjee S.
    J Cell Mol Med; 2019 Feb 10; 23(2):811-818. PubMed ID: 30450679
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  • 39. Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
    Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N.
    Neuromuscul Disord; 2011 Nov 10; 21(11):782-90. PubMed ID: 21727005
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  • 40. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
    Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F.
    Hum Mol Genet; 2003 Nov 01; 12(21):2853-61. PubMed ID: 12966029
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