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Journal Abstract Search

168 related items for PubMed ID: 27193224

  • 1. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
    Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H.
    J Hum Genet; 2016 Aug; 61(8):753-9. PubMed ID: 27193224
    [Abstract] [Full Text] [Related]

  • 2. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
    Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S.
    Neurology; 2010 Jan 12; 74(2):157-64. PubMed ID: 20065251
    [Abstract] [Full Text] [Related]

  • 3. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
    van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.
    Hum Mutat; 2006 May 12; 27(5):453-9. PubMed ID: 16575835
    [Abstract] [Full Text] [Related]

  • 4. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
    Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.
    Orphanet J Rare Dis; 2019 Jul 16; 14(1):179. PubMed ID: 31311558
    [Abstract] [Full Text] [Related]

  • 5. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.
    Brain; 2007 Oct 16; 130(Pt 10):2725-35. PubMed ID: 17878207
    [Abstract] [Full Text] [Related]

  • 6. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
    Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM.
    Neuromuscul Disord; 2014 Apr 16; 24(4):312-20. PubMed ID: 24491487
    [Abstract] [Full Text] [Related]

  • 7. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.
    Neuromuscul Disord; 2014 Apr 16; 24(4):321-4. PubMed ID: 24556424
    [Abstract] [Full Text] [Related]

  • 8. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
    Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H.
    Neuromuscul Disord; 2005 Apr 16; 15(4):271-5. PubMed ID: 15792865
    [Abstract] [Full Text] [Related]

  • 9. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
    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 CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.
    Neuromuscul Disord; 2008 Jul 16; 18(7):565-71. PubMed ID: 18513969
    [Abstract] [Full Text] [Related]

  • 10. 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 16; 42(12):907-12. PubMed ID: 15894594
    [Abstract] [Full Text] [Related]

  • 11. 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 16; 20(12):1234-9. PubMed ID: 22549409
    [Abstract] [Full Text] [Related]

  • 12. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
    Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H.
    J Cell Mol Med; 2017 Jul 16; 21(7):1388-1393. PubMed ID: 28157257
    [Abstract] [Full Text] [Related]

  • 13. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
    Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.
    Neurology; 2007 Sep 18; 69(12):1254-60. PubMed ID: 17634419
    [Abstract] [Full Text] [Related]

  • 14. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
    Hu P, Yuan L, Deng H.
    Mutat Res Rev Mutat Res; 2018 Sep 18; 778():45-50. PubMed ID: 30454682
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 71(5):1033-43. PubMed ID: 12369018
    [Abstract] [Full Text] [Related]

  • 16. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
    Endo T, Manya H, Seta N, Guicheney P.
    Methods Enzymol; 2010 Nov 18; 479():343-52. PubMed ID: 20816175
    [Abstract] [Full Text] [Related]

  • 17. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
    Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.
    Eur J Med Genet; 2009 Nov 18; 52(4):201-6. PubMed ID: 19138766
    [Abstract] [Full Text] [Related]

  • 18. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
    Akasaka-Manya K, Manya H, Endo T.
    Biochem Biophys Res Commun; 2004 Dec 03; 325(1):75-9. PubMed ID: 15522202
    [Abstract] [Full Text] [Related]

  • 19. 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 03; 45(5):752-5. PubMed ID: 22499106
    [Abstract] [Full Text] [Related]

  • 20. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan 03; 21(1):20-30. PubMed ID: 20961758
    [Abstract] [Full Text] [Related]

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