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Journal Abstract Search

229 related items for PubMed ID: 22981475

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  • 2. 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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  • 4. 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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  • 6. 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. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, Stavrou D, Kurz H, Hübner C, Zerres K.
    Neuropediatrics; 2004 Jun; 35(3):174-82. PubMed ID: 15248100
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  • 9. 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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  • 14. 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
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  • 16. 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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  • 17. 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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  • 18. Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
    Baughn J, Gershan W, Rao A.
    Pediatr Pulmonol; 2011 Aug; 46(8):817-9. PubMed ID: 21360834
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  • 19. [Spinal muscular atrophy-type I with respiratory distress].
    Calderón-Rodríguez S, Cantarín-Extremera V, García-Teresa MÁ, Nieto-Moro M, Casado-Flores J, Martín-Del Valle F, Duat-Rodríguez A.
    Rev Neurol; 2013 May 01; 56(9):493-5. PubMed ID: 23629752
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