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Journal Abstract Search

189 related items for PubMed ID: 12219993

  • 1. 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; 12(4):253-61. PubMed ID: 12219993
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  • 4. Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?
    Laverda AM, Battaglia MA, Drigo P, Battistella PA, Casara GL, Suppiej A, Casellato R.
    Childs Nerv Syst; 1993 Apr; 9(2):84-7. PubMed ID: 8319237
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  • 5. Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.
    Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL.
    Neuromuscul Disord; 2001 Sep; 11(6-7):570-8. PubMed ID: 11525887
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  • 6. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
    Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y.
    Ann Neurol; 1995 Jan; 37(1):99-101. PubMed ID: 7818265
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  • 8. [Congenital muscular dystrophies: muscle-eye-brain disease].
    Meyer S, Struffert T, Uyanik G, Oehl-Jaschkowitz B, Hehr U, Shamdeen MG.
    Klin Padiatr; 2005 Jan; 217(2):68-9. PubMed ID: 15770576
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  • 9. Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.
    Pihko H, Lappi M, Raitta C, Sainio K, Valanne L, Somer H, Santavuori P.
    Brain Dev; 1995 Jan; 17(1):57-61. PubMed ID: 7762765
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  • 12. [Fukuyama-type congenital muscular dystrophy with the presence of ocular anomalies].
    Castellacci AM, Gualtierotti R, Santillo G, Simoni F, Pieroni O, Pazzaglia R.
    Pediatr Med Chir; 1992 Jan; 14(2):223-6. PubMed ID: 1508760
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  • 13. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
    Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A.
    Neuromuscul Disord; 1995 May; 5(3):221-5. PubMed ID: 7633187
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  • 14. Walker-Warburg syndrome variant.
    Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T.
    Comput Med Imaging Graph; 2002 May; 26(6):453-8. PubMed ID: 12453509
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  • 16. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
    Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
    Hum Mol Genet; 2003 Mar 01; 12(5):527-34. PubMed ID: 12588800
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  • 18. Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases.
    Heggie P, Grossniklaus HE, Roessmann U, Chou SM, Cruse RP.
    Arch Ophthalmol; 1987 Apr 01; 105(4):520-4. PubMed ID: 3105522
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  • 20. A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.
    Fahnehjelm KT, Ygge J, Engman ML, Mosskin M, Santavuori P, Malm G.
    Acta Ophthalmol Scand; 2001 Feb 01; 79(1):72-5. PubMed ID: 11167293
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