{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T19:04:11Z","timestamp":1784228651794,"version":"3.55.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,16]]},"DOI":"10.7759\/cureus.112808","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T18:08:12Z","timestamp":1784225292000},"source":"Crossref","is-referenced-by-count":0,"title":["Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome"],"prefix":"10.7759","author":[{"given":"Maggie   L","family":"Yau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva  L","family":"Fung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eppie M","family":"Yiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Tewierik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Him","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hon-Ming","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen  K","family":"Yam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ka-Nam","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S","family":"O'Neill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine  B","family":"Howell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuk-Ching","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36108","article-title":"5q31.3 microdeletion syndrome: clinical and molecular characterization of two further cases","volume":"161A","author":"Brown N","year":"2013","unstructured":"Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013, 161A:2604-8. 10.1002\/ajmg.a.36108","journal-title":"Am J Med Genet A"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104946","article-title":"PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature","volume":"55","author":"Reijnders MR","year":"2018","unstructured":"Reijnders MR, Janowski R, Alvi M, et al.. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. 2018, 55:104-13. 10.1136\/jmedgenet-2017-104946","journal-title":"J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24043730","article-title":"Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review","volume":"24","author":"Ohno K","year":"2023","unstructured":"Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. Int J Mol Sci. 2023, 24:3730. 10.3390\/ijms24043730","journal-title":"Int J Mol Sci"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-026-13621-7","article-title":"Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers","volume":"273","author":"Mroczek M","year":"2026","unstructured":"Mroczek M, Preusse C, Hentschel A, et al.. Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers. J Neurol. 2026, 273:94. 10.1007\/s00415-026-13621-7","journal-title":"J Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24032260","article-title":"Neuromuscular and neuromuscular junction manifestations of the PURA-NDD: a systematic review of the reported symptoms and potential treatment options","volume":"24","author":"Mroczek M","year":"2023","unstructured":"Mroczek M, Iyadurai S. Neuromuscular and neuromuscular junction manifestations of the PURA-NDD: a systematic review of the reported symptoms and potential treatment options. Int J Mol Sci. 2023, 24:2260. 10.3390\/ijms24032260","journal-title":"Int J Mol Sci"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.01.005","article-title":"Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine","volume":"32","author":"Wyrebek R","year":"2022","unstructured":"Wyrebek R, DiBartolomeo M, Brooks S, Geller T, Crenshaw M, Iyadurai S. Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine. Neuromuscul Disord. 2022, 32:166-9. 10.1016\/j.nmd.2022.01.005","journal-title":"Neuromuscul Disord"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.09.007","article-title":"PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications","volume":"32","author":"Qashqari H","year":"2022","unstructured":"Qashqari H, McNiven V, Gonorazky H, et al.. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications. Neuromuscul Disord. 2022, 32:842-4. 10.1016\/j.nmd.2022.09.007","journal-title":"Neuromuscul Disord"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.927502","article-title":"The Alberta Infant Motor Scale: a tool for the assessment of motor aspects of neurodevelopment in infancy and early childhood","volume":"13","author":"Eliks M","year":"2022","unstructured":"Eliks M, Gajewska E. The Alberta Infant Motor Scale: a tool for the assessment of motor aspects of neurodevelopment in infancy and early childhood. Front Neurol. 2022, 13:927502. 10.3389\/fneur.2022.927502","journal-title":"Front Neurol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability","volume":"20","author":"Glanzman AM","year":"2010","unstructured":"Glanzman AM, Mazzone E, Main M, et al.. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010, 20:155-61. 10.1016\/j.nmd.2009.11.014","journal-title":"Neuromuscul Disord"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1025-5","article-title":"Congenital myasthenic syndromes","volume":"14","author":"Finsterer J","year":"2019","unstructured":"Finsterer J. Congenital myasthenic syndromes. Orphanet J Rare Dis. 2019, 14:57. 10.1186\/s13023-019-1025-5","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38521","article-title":"Expanding the neurodevelopmental phenotype of PURA syndrome","volume":"176","author":"Lee BH","year":"2018","unstructured":"Lee BH, Reijnders MR, Abubakare O, et al.. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet A. 2018, 176:56-67. 10.1002\/ajmg.a.38521","journal-title":"Am J Med Genet A"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/510918-benefit-of-salbutamol-for-the-treatment-of-neuromuscular-junction-dysfunction-in-patients-with-purine-rich-element-binding-protein-a-pura-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T18:08:12Z","timestamp":1784225292000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/510918-benefit-of-salbutamol-for-the-treatment-of-neuromuscular-junction-dysfunction-in-patients-with-purine-rich-element-binding-protein-a-pura-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,16]]},"references-count":12,"URL":"https:\/\/doi.org\/10.7759\/cureus.112808","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,16]]}}}