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Journal Abstract Search

147 related items for PubMed ID: 22378666

  • 1. Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.
    Jang DH, Sung IY, Ko TS.
    J Child Neurol; 2013 Jan; 28(1):132-7. PubMed ID: 22378666
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. [Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].
    Ishigaki K.
    Brain Nerve; 2016 Feb 01; 68(2):119-27. PubMed ID: 26873231
    [Abstract] [Full Text] [Related]

  • 4. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.
    Neuromuscul Disord; 2005 May 01; 15(5):342-8. PubMed ID: 15833426
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  • 5. Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.
    Talenti G, Robson C, Severino MS, Alves CA, Chitayat D, Dahmoush H, Smith L, Muntoni F, Blaser SI, D'Arco F.
    AJNR Am J Neuroradiol; 2021 Jan 01; 42(1):167-172. PubMed ID: 33122211
    [Abstract] [Full Text] [Related]

  • 6. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
    Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, Oka A, Mizuguchi M, Itoh M, Voit T, Kato Y, Kobayashi M, Saito K, Osawa M.
    Brain Dev; 2004 Oct 01; 26(7):469-79. PubMed ID: 15351084
    [Abstract] [Full Text] [Related]

  • 7. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan 01; 21(1):20-30. PubMed ID: 20961758
    [Abstract] [Full Text] [Related]

  • 8. A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
    Costa C, Oliveira J, Gonçalves A, Santos R, Bronze-da-Rocha E, Rebelo O, Pais RP, Fineza I.
    Neuromuscul Disord; 2013 Jul 01; 23(7):557-61. PubMed ID: 23582336
    [Abstract] [Full Text] [Related]

  • 9. Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
    Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, Wu X, Xiong H.
    Brain Dev; 2015 Oct 01; 37(9):880-6. PubMed ID: 25814170
    [Abstract] [Full Text] [Related]

  • 10. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
    Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T.
    J Hum Genet; 2017 Nov 01; 62(11):945-948. PubMed ID: 28680109
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 26(3):148-55. PubMed ID: 7477753
    [Abstract] [Full Text] [Related]

  • 12. Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
    Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z, Taniguchi-Ikeda M, Mori M, Murayama K, Ohtake A.
    Brain Dev; 2014 Sep 01; 36(8):730-3. PubMed ID: 24113355
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  • 14. Expression of genes related to muscular dystrophy with lissencephaly.
    Yamamoto T, Kato Y, Karita M, Kawaguchi M, Shibata N, Kobayashi M.
    Pediatr Neurol; 2004 Sep 01; 31(3):183-90. PubMed ID: 15351017
    [Abstract] [Full Text] [Related]

  • 15. The mildest known case of Fukuyama-type congenital muscular dystrophy.
    Akiyama T, Ohtsuka Y, Takata T, Hattori J, Kawakita Y, Saito K.
    Brain Dev; 2006 Sep 01; 28(8):537-40. PubMed ID: 16603329
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  • 17. MRI findings in Fukuyama congenital muscular dystrophy: a rare case report.
    Jakkani RK, Sureka J, Shyam S, Mani S.
    Acta Neurol Belg; 2012 Dec 01; 112(4):401-3. PubMed ID: 22553003
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