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180 related items for PubMed ID: 21360834
1. 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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
6. 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 [Abstract] [Full Text] [Related]
7. 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]
8. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Nat Genet; 2001 Sep; 29(1):75-7. PubMed ID: 11528396 [Abstract] [Full Text] [Related]
17. 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 [Abstract] [Full Text] [Related]
18. 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 15; 18(2):183-92. PubMed ID: 24388491 [Abstract] [Full Text] [Related]
20. 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 15; 34(6):474-7. PubMed ID: 16765827 [Abstract] [Full Text] [Related] Page: [Next] [New Search]