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Journal Abstract Search

164 related items for PubMed ID: 12776231

  • 1. Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
    Zolkipli Z, Hartley L, Brown S, Rutherford M, Cowan F, Mercuri E, Muntoni F.
    Neuropediatrics; 2003 Apr; 34(2):92-5. PubMed ID: 12776231
    [Abstract] [Full Text] [Related]

  • 2. Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.
    Philpot J, Pennock J, Cowan F, Sewry CA, Dubowitz V, Bydder G, Muntoni F.
    Eur J Paediatr Neurol; 2000 Apr; 4(3):109-14. PubMed ID: 10872105
    [Abstract] [Full Text] [Related]

  • 3. [Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia].
    Ribeiro VT, Moreira NC, Teixeira J, Guimarães A, Cruz R, Lima L.
    Acta Med Port; 2003 Apr; 16(3):189-92. PubMed ID: 12868400
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.
    van der Knaap MS, Smit LM, Barth PG, Catsman-Berrevoets CE, Brouwer OF, Begeer JH, de Coo IF, Valk J.
    Ann Neurol; 1997 Jul; 42(1):50-9. PubMed ID: 9225685
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Brain MRI features of merosin-negative congenital muscular dystrophy.
    Ibrahim Abdulla JK, Vattoth S, Al Tawari AA, Pandey T, Abubacker S.
    Australas Radiol; 2007 Dec 01; 51 Suppl():B221-3. PubMed ID: 17991069
    [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; 2007 Dec 01; 28(2):141-9. PubMed ID: 10101782
    [Abstract] [Full Text] [Related]

  • 9. Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children.
    Tsao CY, Mendell JR, Rusin J, Luquette M.
    J Child Neurol; 1998 Jun 01; 13(6):253-6. PubMed ID: 9660506
    [Abstract] [Full Text] [Related]

  • 10. [A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness].
    Yamada H, Komiyama A, Suzuki Y, Misugi N, Hasegawa O.
    Rinsho Shinkeigaku; 1993 Apr 01; 33(4):405-10. PubMed ID: 8370203
    [Abstract] [Full Text] [Related]

  • 11. Congenital muscular dystrophy.
    Huang FL, Mak SC, Chi CS.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Feb 01; 63(2):165-9. PubMed ID: 10677931
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
    Rom J Morphol Embryol; 2008 Sep 18; 49(2):229-33. PubMed ID: 18516331
    [Abstract] [Full Text] [Related]

  • 14. A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.
    Hino-Fukuyo N, Haginoya K, Hayashi YK, Nishino I, Murakami T, Nonaka I, Togashi K, Tanaka S, Takayanagi M, Yokoyama H, Sakamoto O, Abe T, Toda T, Iinuma K.
    Neuromuscul Disord; 2006 Apr 18; 16(4):274-6. PubMed ID: 16545565
    [Abstract] [Full Text] [Related]

  • 15. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.
    Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F.
    Neuromuscul Disord; 1999 Mar 18; 9(2):81-5. PubMed ID: 10220862
    [Abstract] [Full Text] [Related]

  • 16. LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
    Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L.
    Eur J Paediatr Neurol; 2009 Jan 18; 13(1):72-6. PubMed ID: 18406646
    [Abstract] [Full Text] [Related]

  • 17. [Congenital muscular dystrophy: report on 10 cases].
    Olivé M, Roig M, Bonaventura I, Navarro C.
    Neurologia; 1994 Nov 18; 9(9):387-92. PubMed ID: 7811489
    [Abstract] [Full Text] [Related]

  • 18. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
    Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F.
    Arch Neurol; 2004 Aug 18; 61(8):1301-6. PubMed ID: 15313851
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
    Yoshioka M, Kuroki S.
    Am J Med Genet; 1994 Nov 15; 53(3):245-50. PubMed ID: 7856660
    [Abstract] [Full Text] [Related]

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