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3. 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 [TBL] [Abstract][Full Text] [Related]
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6. 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 [TBL] [Abstract][Full Text] [Related]
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8. 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 [TBL] [Abstract][Full Text] [Related]
9. An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1). Wu S; Chen T; Li Y; Chen L; Xu Q; Xiao F; Bai Z Eur J Med Genet; 2018 Oct; 61(10):602-606. PubMed ID: 29653221 [TBL] [Abstract][Full Text] [Related]
10. 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; 346(1-2):35-42. PubMed ID: 25248952 [TBL] [Abstract][Full Text] [Related]
11. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Giannini A; Pinto AM; Rossetti G; Prandi E; Tiziano D; Brahe C; Nardocci N Intensive Care Med; 2006 Nov; 32(11):1851-5. PubMed ID: 16964485 [TBL] [Abstract][Full Text] [Related]
12. Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. Ikeda A; Yamashita S; Tsuyusaki Y; Tanaka M; Tanaka Y; Hashiguchi A; Takashima H; Goto T Brain Dev; 2018 Feb; 40(2):155-158. PubMed ID: 28899595 [TBL] [Abstract][Full Text] [Related]
13. Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1. Holbrook SE; Hicks AN; Martin PB; Hines TJ; Castro HP; Cox GA Hum Mol Genet; 2024 Oct; 33(20):1800-1814. PubMed ID: 39128026 [TBL] [Abstract][Full Text] [Related]
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15. 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 [TBL] [Abstract][Full Text] [Related]
16. 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 [TBL] [Abstract][Full Text] [Related]
17. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1). Perego MGL; Galli N; Nizzardo M; Govoni A; Taiana M; Bresolin N; Comi GP; Corti S Cell Mol Life Sci; 2020 Sep; 77(17):3351-3367. PubMed ID: 32123965 [TBL] [Abstract][Full Text] [Related]
18. 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 [TBL] [Abstract][Full Text] [Related]
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