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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

847 related items for PubMed ID: 17634419

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  • 9. 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
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  • 10. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
    Endo T, Manya H, Seta N, Guicheney P.
    Methods Enzymol; 2010 Apr; 479():343-52. PubMed ID: 20816175
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  • 14. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M.
    Brain Dev; 2009 Jun; 31(6):419-22. PubMed ID: 18834683
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  • 15. 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; 18(7):565-71. PubMed ID: 18513969
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  • 16. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
    Quijano-Roy S, Martí-Carrera I, Makri S, Mayer M, Maugenre S, Richard P, Berard C, Viollet L, Leheup B, Guicheney P, Pinard JM, Estournet B, Carlier RY.
    Brain Dev; 2006 May; 28(4):232-42. PubMed ID: 16368217
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  • 17. 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; 130(Pt 10):2725-35. PubMed ID: 17878207
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  • 18. A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
    Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U.
    Eur J Paediatr Neurol; 2007 Jan; 11(1):46-9. PubMed ID: 17161965
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  • 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; 45(5):752-5. PubMed ID: 22499106
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