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Journal Abstract Search

384 related items for PubMed ID: 14506069

  • 1. 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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  • 2. 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
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  • 5. 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
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  • 8. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
    Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K.
    Neuropediatrics; 1996 Feb; 27(1):8-15. PubMed ID: 8677029
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  • 9. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
    Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I.
    Eur J Paediatr Neurol; 2014 Mar; 18(2):183-92. PubMed ID: 24388491
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  • 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
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  • 11. 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
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  • 12. 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
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  • 15. [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
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  • 16. 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
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  • 19. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
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