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Schwartz-Jampel syndrome.
Pascuzzi RM. Pascuzzi RM. Semin Neurol. 1991 Sep;11(3):267-73. doi: 10.1055/s-2008-1041231. Semin Neurol. 1991. PMID: 1947489 Review. No abstract available.
[The Schwartz-Jampel syndrome].
Urtizberea JA, Severa G, Ropars J, Malfatti E. Urtizberea JA, et al. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:37-46. doi: 10.1051/medsci/2023133. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975769 Free article. French.
The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. ...
The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined w …
Blepharospasm management in Schwartz-Jampel syndrome: A systematic review.
Bouchikh-El Jarroudi R, Roche Fernández K, Casas-Gimeno E, González-Valdivia H, Ortez-González CI, Roche D, Prat-Bartomeu J, Videla S. Bouchikh-El Jarroudi R, et al. Eur J Ophthalmol. 2025 Nov;35(6):2277-2289. doi: 10.1177/11206721251348991. Epub 2025 Jun 26. Eur J Ophthalmol. 2025. PMID: 40567111
BackgroundBlepharospasm is one of the most limiting symptoms in patients with Schwartz-Jampel syndrome and can affect early visual development, causing amblyopia and leading to disability. ...All scientific manuscripts published discussing the management of blepharospasm i …
BackgroundBlepharospasm is one of the most limiting symptoms in patients with Schwartz-Jampel syndrome and can affect early visual de …
Schwartz-Jampel Syndrome.
Mathur N, Ghosh PS. Mathur N, et al. Pediatr Neurol. 2017 Mar;68:77-78. doi: 10.1016/j.pediatrneurol.2016.12.007. Epub 2017 Jan 4. Pediatr Neurol. 2017. PMID: 28129933 No abstract available.
Schwartz-Jampel syndrome.
Chandra SR, Issac TG, Gayathri N, Shivaram S. Chandra SR, et al. J Pediatr Neurosci. 2015 Apr-Jun;10(2):169-71. doi: 10.4103/1817-1745.159202. J Pediatr Neurosci. 2015. PMID: 26167227 Free PMC article.
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. ...
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. ...
Schwartz-Jampel syndrome and perlecan deficiency.
Stum M, Davoine CS, Fontaine B, Nicole S. Stum M, et al. Acta Myol. 2005 Oct;24(2):89-92. Acta Myol. 2005. PMID: 16550923 Review.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by the association of myotonia with chondrodysplasia. ...
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by the association of myotonia with chondrodyspla …
Schwartz-Jampel syndrome.
Bastola P. Bastola P. Kathmandu Univ Med J (KUMJ). 2010 Jul-Sep;8(31):348-51. doi: 10.3126/kumj.v8i3.6227. Kathmandu Univ Med J (KUMJ). 2010. PMID: 22610743
This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome....
This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concu …
Schwartz-Jampel syndrome.
Kulkarni ML, Pillai R. Kulkarni ML, et al. Indian Pediatr. 2004 Mar;41(3):285. Indian Pediatr. 2004. PMID: 15064520 Free article. No abstract available.
469 results