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Journal Abstract Search

964 related items for PubMed ID: 18975603

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

  • 2. 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 Oct; 52(4):201-6. PubMed ID: 19138766
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. [Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin].
    Toda T.
    Rinsho Shinkeigaku; 2007 Nov 01; 47(11):743-8. PubMed ID: 18210789
    [Abstract] [Full Text] [Related]

  • 6. [Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].
    Toda T.
    Rinsho Shinkeigaku; 2005 Nov 01; 45(11):932-4. PubMed ID: 16447766
    [Abstract] [Full Text] [Related]

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  • 8. Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.
    Lee J, Lee BL, Lee M, Kim JH, Kim JW, Ki CS.
    J Neurol Sci; 2009 Jun 15; 281(1-2):122-4. PubMed ID: 19324374
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M.
    Brain Dev; 2009 Jun 15; 31(6):419-22. PubMed ID: 18834683
    [Abstract] [Full Text] [Related]

  • 10. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
    Endo T, Manya H, Seta N, Guicheney P.
    Methods Enzymol; 2010 Jun 15; 479():343-52. PubMed ID: 20816175
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 130(Pt 10):2725-35. PubMed ID: 17878207
    [Abstract] [Full Text] [Related]

  • 12. [Fukuyama-type congenital muscular dystrophy].
    Toda T.
    Rinsho Shinkeigaku; 2000 Dec 15; 40(12):1297-9. PubMed ID: 11464484
    [Abstract] [Full Text] [Related]

  • 13. The mildest known case of Fukuyama-type congenital muscular dystrophy.
    Akiyama T, Ohtsuka Y, Takata T, Hattori J, Kawakita Y, Saito K.
    Brain Dev; 2006 Sep 15; 28(8):537-40. PubMed ID: 16603329
    [Abstract] [Full Text] [Related]

  • 14. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.
    Neuromuscul Disord; 2005 May 15; 15(5):342-8. PubMed ID: 15833426
    [Abstract] [Full Text] [Related]

  • 15. Glycosylation defects: a new mechanism for muscular dystrophy?
    Grewal PK, Hewitt JE.
    Hum Mol Genet; 2003 Oct 15; 12 Spec No 2():R259-64. PubMed ID: 12925572
    [Abstract] [Full Text] [Related]

  • 16. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
    Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, Méziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F.
    Neurogenetics; 2004 Feb 15; 5(1):27-34. PubMed ID: 14652796
    [Abstract] [Full Text] [Related]

  • 17. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
    Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, Oka A, Mizuguchi M, Itoh M, Voit T, Kato Y, Kobayashi M, Saito K, Osawa M.
    Brain Dev; 2004 Oct 15; 26(7):469-79. PubMed ID: 15351084
    [Abstract] [Full Text] [Related]

  • 18. Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.
    Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T.
    Hum Mol Genet; 2006 Apr 15; 15(8):1279-89. PubMed ID: 16531417
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 21(1):20-30. PubMed ID: 20961758
    [Abstract] [Full Text] [Related]

  • 20. Molecular heterogeneity in fetal forms of type II lissencephaly.
    Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N.
    Hum Mutat; 2007 Oct 15; 28(10):1020-7. PubMed ID: 17559086
    [Abstract] [Full Text] [Related]

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