{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:15:55Z","timestamp":1707524155898},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,12]]},"DOI":"10.7759\/cureus.11464","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T07:15:42Z","timestamp":1605251742000},"source":"Crossref","is-referenced-by-count":0,"title":["Generalized Hypotonia Revealing Spinal Muscular Atrophy Type 2: The First Case Reported From the Dominican Republic and a Review of the Literature"],"prefix":"10.7759","author":[{"given":"Rub\u00e9n","family":"Blanco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessie","family":"Pichardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Abdullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn MR","year":"2008","unstructured":"Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008, 371:2120-33. 10.1016\/S0140-6736(08)60921-6","journal-title":"Lancet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li HM","year":"2000","unstructured":"Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H. A mouse model for spinal muscular atrophy. Nat Genet. 2000, 24:66-70. 10.1038\/71709","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre S","year":"1997","unstructured":"Lefebvre S, Burlet P, Liu Q, et al.. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997, 16:265-9. 10.1038\/ng0797-265","journal-title":"Nat Genet"},{"key":"ref4","article-title":"Spinal muscular atrophy","author":"Prior TW","year":"2019","unstructured":"Prior TW, Leach ME, Finanger E. Spinal muscular atrophy. GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al. (ed): University of Washington, Seattle; 2019."},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2015.03.010","article-title":"Spinal muscular atrophies","volume":"62","author":"Darras BT","year":"2015","unstructured":"Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015, 62:743-66. 10.1016\/j.pcl.2015.03.010","journal-title":"Pediatr Clin North Am"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws108","article-title":"Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells","volume":"135","author":"Oates EC","year":"2012","unstructured":"Oates EC, Reddel S, Rodriguez ML, et al.. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain. 2012, 135:1714-23. 10.1093\/brain\/aws108","journal-title":"Brain"},{"key":"ref7","article-title":"Spinal muscular atrophy with open bite: a case report (Article in Chinese)","volume":"31","author":"Zheng W","year":"2013","unstructured":"Zheng W, Lin J. Spinal muscular atrophy with open bite: a case report (Article in Chinese). Hua Xi Kou Qiang Yi Xue Za Zhi. 2013, 31:315-6.","journal-title":"Hua Xi Kou Qiang Yi Xue Za Zhi"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.08.1222","article-title":"Spinal muscular atrophy type 2, a case report","volume":"357","author":"Massucato BS","year":"2015","unstructured":"Massucato BS, Cognette RC, Barroti LC, Godoy AJ. Spinal muscular atrophy type 2, a case report. J Neurol Sci. 2015, 357:E344. 10.1016\/j.jns.2015.08.1222","journal-title":"J Neurol Sci"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814550497","article-title":"Congenital segmental spinal muscular atrophy: a case report","volume":"30","author":"Sava\u015f T","year":"2015","unstructured":"Sava\u015f T, Erol I, \u00d6zkale Y, Saygi S. Congenital segmental spinal muscular atrophy: a case report. J Child Neurol. 2015, 30:509-12. 10.1177\/0883073814550497","journal-title":"J Child Neurol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000124","article-title":"Sensory neuronopathy in spinal muscular atrophy: a case presentation","volume":"18","author":"Reid D","year":"2016","unstructured":"Reid D, Zinger Y, Raheja D. Sensory neuronopathy in spinal muscular atrophy: a case presentation. J Clin Neuromuscul Dis. 2016, 18:44-6. 10.1097\/CND.0000000000000124","journal-title":"J Clin Neuromuscul Dis"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.09.013","article-title":"A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4","volume":"26","author":"Fleming J","year":"2016","unstructured":"Fleming J, Quan D. A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4. Neuromuscul Disord. 2016, 26:841-3. 10.1016\/j.nmd.2016.09.013","journal-title":"Neuromuscul Disord"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.18295\/squmj.2017.17.03.018","article-title":"Segmental spinal muscular atrophy localised to the lower limbs: first case from Oman","volume":"17","author":"Koul R","year":"2017","unstructured":"Koul R, Al-Futaisi A, Al-Thihli K, Bruwer Z, Scott P. Segmental spinal muscular atrophy localised to the lower limbs: first case from Oman. Sultan Qaboos Univ Med J. 2017, 17:e355-7. 10.18295\/squmj.2017.17.03.018","journal-title":"Sultan Qaboos Univ Med J"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S202046","article-title":"A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran","volume":"12","author":"Shervin Badv R","year":"2019","unstructured":"Shervin Badv R, Nilipour Y, Rahimi-Dehgolan S, Rashidi-Nezhad A, Ghahvechi Akbari M. A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. Int Med Case Rep J. 2019, 12:155-9. 10.2147\/IMCRJ.S202046","journal-title":"Int Med Case Rep J"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.17925\/USN.2019.15.2.97","article-title":"Spinal muscular atrophy\u2014two case reports of compound heterozygosity","volume":"2","author":"Cooper DS","year":"2019","unstructured":"Cooper DS, Darki L, Beydoun SR. Spinal muscular atrophy\u2014two case reports of compound heterozygosity. US Neurol. 2019, 2:97-9. 10.17925\/USN.2019.15.2.97","journal-title":"US Neurol"},{"key":"ref15","doi-asserted-by":"crossref","unstructured":"Case study. 4-year-old with spinal muscular atrophy type 2. (2019). Accessed: October 10, 2020: https:\/\/www.chop.edu\/news\/case-study-4-year-old-spinal-muscular-atrophy-type-2.","DOI":"10.31080\/ASNE.2019.02.0124"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/45094-generalized-hypotonia-revealing-spinal-muscular-atrophy-type-2-the-first-case-reported-from-the-dominican-republic-and-a-review-of-the-literature","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:20:13Z","timestamp":1707506413000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/45094-generalized-hypotonia-revealing-spinal-muscular-atrophy-type-2-the-first-case-reported-from-the-dominican-republic-and-a-review-of-the-literature"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,12]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.11464","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11,12]]}}}