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Journal Abstract Search

148 related items for PubMed ID: 24657014

  • 1. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
    Chong YK, Ma LC, Lo KL, Lee CK, Mak CM, Kan AN, Lam CW.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):532-5. PubMed ID: 24657014
    [Abstract] [Full Text] [Related]

  • 2. 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; 24(4):321-4. PubMed ID: 24556424
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 Jan 12; 52(4):201-6. PubMed ID: 19138766
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  • 6. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
    Endo T, Manya H, Seta N, Guicheney P.
    Methods Enzymol; 2010 Jan 12; 479():343-52. PubMed ID: 20816175
    [Abstract] [Full Text] [Related]

  • 7. 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 12; 130(Pt 10):2725-35. PubMed ID: 17878207
    [Abstract] [Full Text] [Related]

  • 8. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
    Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
    Ann Neurol; 2008 Nov 12; 64(5):573-82. PubMed ID: 19067344
    [Abstract] [Full Text] [Related]

  • 9. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
    Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P.
    Neuromuscul Disord; 2008 Jan 12; 18(1):45-51. PubMed ID: 17869517
    [Abstract] [Full Text] [Related]

  • 10. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
    Murakami T, Hayashi YK, Ogawa M, Noguchi S, Campbell KP, Togawa M, Inoue T, Oka A, Ohno K, Nonaka I, Nishino I.
    Brain Dev; 2009 Jun 12; 31(6):465-8. PubMed ID: 18804929
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.
    Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Prelle A, Comi GP, Bresolin N, Moggio M.
    J Neurol Sci; 2006 Apr 15; 243(1-2):47-51. PubMed ID: 16386759
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 45(5):752-5. PubMed ID: 22499106
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 18(7):565-71. PubMed ID: 18513969
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 72(4):550-8. PubMed ID: 23109149
    [Abstract] [Full Text] [Related]

  • 16. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
    Murakami T, Nishino I.
    Brain Nerve; 2008 Oct 15; 60(10):1159-64. PubMed ID: 18975603
    [Abstract] [Full Text] [Related]

  • 17. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
    Hu P, Yuan L, Deng H.
    Mutat Res Rev Mutat Res; 2018 Oct 15; 778():45-50. PubMed ID: 30454682
    [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. 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 03; 42(12):907-12. PubMed ID: 15894594
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 61(8):753-9. PubMed ID: 27193224
    [Abstract] [Full Text] [Related]

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