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Journal Abstract Search

549 related items for PubMed ID: 10222457

  • 1. Merosin-positive congenital muscular dystrophy: a large inbred family.
    Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G.
    Neuropediatrics; 1999 Feb; 30(1):22-8. PubMed ID: 10222457
    [Abstract] [Full Text] [Related]

  • 2. [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
    Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D.
    Rev Neurol (Paris); 1996 Jan; 152(1):11-9. PubMed ID: 8729391
    [Abstract] [Full Text] [Related]

  • 3. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
    Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M.
    Ann Neurol; 2000 Feb; 47(2):152-61. PubMed ID: 10665485
    [Abstract] [Full Text] [Related]

  • 4. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
    Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.
    Arch Inst Pasteur Tunis; 2006 Feb; 83(1-4):19-23. PubMed ID: 19388593
    [Abstract] [Full Text] [Related]

  • 5. Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
    Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsöld R, Helliwell TR, Appleton R.
    Neuropediatrics; 1995 Jun; 26(3):148-55. PubMed ID: 7477753
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
    Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K.
    Nat Genet; 1995 Oct; 11(2):216-8. PubMed ID: 7550355
    [Abstract] [Full Text] [Related]

  • 7. [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up].
    Panteliadis C, Karatza E, Xinias I, Flaris N, Tzitiridou M, Ramantani G.
    Klin Padiatr; 2005 Oct; 217(5):281-5. PubMed ID: 16167276
    [Abstract] [Full Text] [Related]

  • 8. [Muscular dystrophies due to alterations at extracellular space level: congenital muscular dystrophy caused by merosin deficiency].
    Smeyers P.
    Rev Neurol; 2005 Oct; 28(2):141-9. PubMed ID: 10101782
    [Abstract] [Full Text] [Related]

  • 9. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
    Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F.
    Neuropediatrics; 1997 Aug; 28(4):217-22. PubMed ID: 9309712
    [Abstract] [Full Text] [Related]

  • 10. Beyond dystrophin: current progress in the muscular dystrophies.
    Bönnemann CG, McNally EM, Kunkel LM.
    Curr Opin Pediatr; 1996 Dec; 8(6):569-82. PubMed ID: 9018440
    [Abstract] [Full Text] [Related]

  • 11. Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
    Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F.
    Neuropediatrics; 2000 Aug; 31(4):186-9. PubMed ID: 11071142
    [Abstract] [Full Text] [Related]

  • 12. [Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms].
    Nonaka I.
    Nihon Rinsho; 1997 Dec; 55(12):3176-80. PubMed ID: 9436431
    [Abstract] [Full Text] [Related]

  • 13. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
    Rom J Morphol Embryol; 2008 Dec; 49(2):229-33. PubMed ID: 18516331
    [Abstract] [Full Text] [Related]

  • 14. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.
    Coral-Vazquez RM, Rosas-Vargas H, Meza-Espinosa P, Mendoza I, Huicochea JC, Ramon G, Salamanca F.
    J Hum Genet; 2003 Dec; 48(2):91-5. PubMed ID: 12601554
    [Abstract] [Full Text] [Related]

  • 15. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
    Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
    Biochem Biophys Res Commun; 2006 Apr 07; 342(2):489-502. PubMed ID: 16487936
    [Abstract] [Full Text] [Related]

  • 16. A novel form of familial congenital muscular dystrophy in two adolescents.
    Salih MA, Al Rayess M, Cutshall S, Urtizberea JA, Al-Turaiki MH, Ozo CO, Straub V, Akbar M, Abid M, Andeejani A, Campbell KP.
    Neuropediatrics; 1998 Dec 07; 29(6):289-93. PubMed ID: 10029346
    [Abstract] [Full Text] [Related]

  • 17. Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
    Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B.
    C R Acad Sci III; 1995 Dec 07; 318(12):1245-52. PubMed ID: 8745640
    [Abstract] [Full Text] [Related]

  • 18. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
    Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T.
    Hum Mol Genet; 1994 Sep 07; 3(9):1657-61. PubMed ID: 7833925
    [Abstract] [Full Text] [Related]

  • 19. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
    García-García D, Teijeira-Bautista S, Fernández-Rodríguez JM, Flores-Calvete J, Sánchez-Espíldora P, Fernández-Couto D, Cimas-Hernando I, Teijeiro-Ferreira A, Fernández-Hojas R, Brasa-Fernández Fierros J, Martínez de Alegría A, Escribano-Arias JL, Núñez-Delgado M, Navarro-Fernández Balbuena C.
    Rev Neurol; 1998 Jun 07; 26(154):905-11. PubMed ID: 9658457
    [Abstract] [Full Text] [Related]

  • 20. Congenital muscular dystrophy with merosin deficiency.
    Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M.
    C R Acad Sci III; 1994 Apr 07; 317(4):351-7. PubMed ID: 8000914
    [Abstract] [Full Text] [Related]

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