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Journal Abstract Search

188 related items for PubMed ID: 15313851

  • 1.
    ; . PubMed ID:
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  • 2. An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
    Demir E, Gucuyener K, Akturk A, Talim B, Konus O, Del Bo R, Ghezzi S, Comi GP.
    Neuromuscul Disord; 2009 Oct; 19(10):692-5. PubMed ID: 19679478
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  • 4. 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]

  • 5. Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.
    Leyten QH, Gabreëls FJ, Renier WO, Renkawek K, ter Laak HJ, Mullaart RA.
    Neuropediatrics; 1992 Dec; 23(6):316-20. PubMed ID: 1491751
    [Abstract] [Full Text] [Related]

  • 6. 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 Dec; 4(3):109-14. PubMed ID: 10872105
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  • 7. Cobblestone lissencephaly with normal eyes and muscle.
    Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H.
    Neuropediatrics; 1996 Apr; 27(2):70-5. PubMed ID: 8737821
    [Abstract] [Full Text] [Related]

  • 8. MRI of the brain in muscle-eye-brain (MEB) disease.
    Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P.
    Neuroradiology; 1994 Aug; 36(6):473-6. PubMed ID: 7991095
    [Abstract] [Full Text] [Related]

  • 9. Walker-Warburg syndrome.
    Vajsar J, Schachter H.
    Orphanet J Rare Dis; 2006 Aug 03; 1():29. PubMed ID: 16887026
    [Abstract] [Full Text] [Related]

  • 10. Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings.
    Aslan M, Alkan A, Yakinci C, Sonmezgoz E, Bicak U, Zorludemir S.
    Brain Dev; 2005 Jun 03; 27(4):308-10. PubMed ID: 15862197
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 51 Suppl():B221-3. PubMed ID: 17991069
    [Abstract] [Full Text] [Related]

  • 12. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
    Yoshioka M.
    Brain Dev; 2009 Jun 03; 31(6):419-22. PubMed ID: 18834683
    [Abstract] [Full Text] [Related]

  • 13. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
    Zervos A, Hunt KE, Tong HQ, Avallone J, Morales J, Friedman N, Cohen BH, Clark B, Guo S, Gazda H, Beggs AH, Traboulsi EI.
    Eur J Ophthalmol; 2002 Jun 03; 12(4):253-61. PubMed ID: 12219993
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of muscle-eye-brain disease.
    Balci B, Morris-Rosendahl DJ, Celebi A, Talim B, Topaloglu H, Dinçer P.
    Prenat Diagn; 2007 Jan 03; 27(1):51-4. PubMed ID: 17154333
    [Abstract] [Full Text] [Related]

  • 15. Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
    Seidahmed MZ, Sunada Y, Ozo CO, Hamid F, Campbell KP, Salih MA.
    Neuropediatrics; 1996 Dec 03; 27(6):305-10. PubMed ID: 9050048
    [Abstract] [Full Text] [Related]

  • 16. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
    Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G.
    Eur J Paediatr Neurol; 2008 Mar 03; 12(2):133-6. PubMed ID: 17881266
    [Abstract] [Full Text] [Related]

  • 17. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
    Moog U, Jones MC, Bird LM, Dobyns WB.
    J Med Genet; 2005 Dec 03; 42(12):913-21. PubMed ID: 15879499
    [Abstract] [Full Text] [Related]

  • 18. Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
    Zolkipli Z, Hartley L, Brown S, Rutherford M, Cowan F, Mercuri E, Muntoni F.
    Neuropediatrics; 2003 Apr 03; 34(2):92-5. PubMed ID: 12776231
    [Abstract] [Full Text] [Related]

  • 19. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
    Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE.
    Neurology; 2001 Apr 24; 56(8):1059-69. PubMed ID: 11320179
    [Abstract] [Full Text] [Related]

  • 20. [Congenital muscular dystrophies: muscle-eye-brain disease].
    Meyer S, Struffert T, Uyanik G, Oehl-Jaschkowitz B, Hehr U, Shamdeen MG.
    Klin Padiatr; 2005 Apr 24; 217(2):68-9. PubMed ID: 15770576
    [Abstract] [Full Text] [Related]

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