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Journal Abstract Search

159 related items for PubMed ID: 21353777

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  • 6. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
    Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R.
    Hum Genet; 2004 Sep; 115(4):319-26. PubMed ID: 15290238
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  • 7. 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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  • 8. Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
    Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R.
    Neuromuscul Disord; 2015 Feb; 25(2):169-71. PubMed ID: 25454169
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  • 9. [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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  • 11. The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
    Porro F, Rinchetti P, Magri F, Riboldi G, Nizzardo M, Simone C, Zanetta C, Faravelli I, Corti S.
    J Neurol Sci; 2014 Nov 15; 346(1-2):35-42. PubMed ID: 25248952
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  • 13. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
    Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.
    Brain Dev; 2016 Aug 15; 38(7):685-9. PubMed ID: 26922252
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  • 15. Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
    AlSaman A, Tomoum H.
    J Child Neurol; 2010 Jun 15; 25(6):764-9. PubMed ID: 20197267
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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 15; 87(1):31-41. PubMed ID: 18802676
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  • 18. 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 15; 32(4):288-90. PubMed ID: 15797190
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  • 19. Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
    Sangiuolo F, Filareto A, Giardina E, Nardone AM, Pilu G, Pietropolli A, Bertini E, Novelli G.
    Prenat Diagn; 2004 Oct 15; 24(10):839-41. PubMed ID: 15503272
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  • 20. Early infantile sensory-motor neuropathy with late onset respiratory distress.
    Blaschek A, Gläser D, Kuhn M, Schroeder AS, Wimmer C, Heimkes B, Schön C, Müller-Felber W.
    Neuromuscul Disord; 2014 Mar 15; 24(3):269-71. PubMed ID: 24342282
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