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Showing results for spinal muscular atrophy with respiratory distress type 1
Your search for spinal mucular atrophy with respiratory distress type 1 retrieved no results
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S. Saladini M, et al. J Cell Mol Med. 2020 Jan;24(2):1169-1178. doi: 10.1111/jcmm.14874. Epub 2019 Dec 4. J Cell Mol Med. 2020. PMID: 31802621 Free PMC article. Review.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin mu-binding protein 2, leading to pr …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosoma …
Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
Tian Y, Xing J, Shi Y, Yuan E. Tian Y, et al. Front Neurosci. 2023 Nov 17;17:1252075. doi: 10.3389/fnins.2023.1252075. eCollection 2023. Front Neurosci. 2023. PMID: 38046662 Free PMC article.
Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S). ...
Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress …
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C. Viguier A, et al. Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31. Neuromuscul Disord. 2019. PMID: 30598237
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. ...
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosoma …
Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.
Saeed M, Fawzy W, Al-Tala S, Magid TA, Ahmed H. Saeed M, et al. J Coll Physicians Surg Pak. 2021 Dec;31(12):1494-1496. doi: 10.29271/jcpsp.2021.12.1494. J Coll Physicians Surg Pak. 2021. PMID: 34794294
To the best of our knowledge, the variant has not been described in the literature so far. Key Words: Spinal muscular atrophy with respiratory distress type-1 (SMARD1), Hypotonia, respiratory distress, infants....
To the best of our knowledge, the variant has not been described in the literature so far. Key Words: Spinal muscular atrop …
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. Porro F, et al. J Neurol Sci. 2014 Nov 15;346(1-2):35-42. doi: 10.1016/j.jns.2014.09.010. Epub 2014 Sep 16. J Neurol Sci. 2014. PMID: 25248952 Review.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as dis …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.
Pekuz S, Güzin Y, Sarıtaş S, Kırbıyık Ö, Ünalp A, Yılmaz Ü. Pekuz S, et al. Turk J Pediatr. 2022;64(2):364-374. doi: 10.24953/turkjped.2020.2012. Turk J Pediatr. 2022. PMID: 35611426 Free article.
BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin mu-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q1 …
BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a v …
Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1.
Berti B, Buonsenso D, De Rose C, Ferrantini G, De Sanctis R, Forcina N, Mercuri E, Pane M. Berti B, et al. J Ultrasound. 2022 Jun;25(2):395-398. doi: 10.1007/s40477-021-00584-w. Epub 2021 Apr 13. J Ultrasound. 2022. PMID: 33847972 Free PMC article.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604,320), is a rare autosomal recessive disease resulting from degeneration of motor neurons in the anterior horns, which leads irreversible diaphragmat …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604,320), is …
98 results