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Journal Abstract Search

177 related items for PubMed ID: 15797190

  • 1. A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
    Tachi N, Kikuchi S, Kozuka N, Nogami A.
    Pediatr Neurol; 2005 Apr; 32(4):288-90. PubMed ID: 15797190
    [Abstract] [Full Text] [Related]

  • 2. Mutation of gene in spinal muscular atrophy respiratory distress type I.
    Wong VC, Chung BH, Li S, Goh W, Lee SL.
    Pediatr Neurol; 2006 Jun; 34(6):474-7. PubMed ID: 16765827
    [Abstract] [Full Text] [Related]

  • 3. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
    Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R.
    Brain; 2003 Dec; 126(Pt 12):2682-92. PubMed ID: 14506069
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  • 4. Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
    AlSaman A, Tomoum H.
    J Child Neurol; 2010 Jun; 25(6):764-9. PubMed ID: 20197267
    [Abstract] [Full Text] [Related]

  • 5. Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K.
    J Child Neurol; 2008 Feb; 23(2):199-204. PubMed ID: 18263757
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  • 6. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C.
    Ann Neurol; 2003 Dec; 54(6):719-24. PubMed ID: 14681881
    [Abstract] [Full Text] [Related]

  • 7. A new mutation of IGHMBP2 gene.
    Guenther UP, Schuelke M, Grohmann K, Varon R.
    Pediatr Neurol; 2006 Feb; 34(2):168. PubMed ID: 16458836
    [No Abstract] [Full Text] [Related]

  • 8. [A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
    Chalançon M, Debillon T, Dieterich K, Commare MC.
    Arch Pediatr; 2012 Oct; 19(10):1082-5. PubMed ID: 22981475
    [Abstract] [Full Text] [Related]

  • 9. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
    Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.
    Hum Mutat; 2004 May; 23(5):525-6. PubMed ID: 15108294
    [Abstract] [Full Text] [Related]

  • 10. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
    Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.
    Hum Mutat; 2007 Aug; 28(8):808-15. PubMed ID: 17431882
    [Abstract] [Full Text] [Related]

  • 11. Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.
    Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F.
    Eur J Paediatr Neurol; 2012 Jan; 16(1):90-4. PubMed ID: 22099258
    [Abstract] [Full Text] [Related]

  • 12. The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Diers A, Kaczinski M, Grohmann K, Hübner C, Stoltenburg-Didinger G.
    Acta Neuropathol; 2005 Sep; 110(3):289-97. PubMed ID: 16025284
    [Abstract] [Full Text] [Related]

  • 13. Interfamilial phenotypic heterogeneity in SMARD1.
    Joseph S, Robb SA, Mohammed S, Lillis S, Simonds A, Manzur AY, Walter S, Wraige E.
    Neuromuscul Disord; 2009 Mar; 19(3):193-5. PubMed ID: 19157874
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  • 17. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
    Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M.
    J Mol Med (Berl); 2009 Jan; 87(1):31-41. PubMed ID: 18802676
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  • 20. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
    Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.
    Neuromuscul Disord; 2013 Jun; 23(6):461-8. PubMed ID: 23566544
    [Abstract] [Full Text] [Related]

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