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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.
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 blepharo …
BackgroundBlepharospasm is one of the most limiting symptoms in patients with Schwartz-Jampel syndrome and can affect early vi …
Structural insights on perlecan and Schwartz-Jampel syndrome.
Sohail AA, Koski MK, Ruddock LW. Sohail AA, et al. Matrix Biol. 2025 Jun;138:1-7. doi: 10.1016/j.matbio.2025.03.002. Epub 2025 Mar 19. Matrix Biol. 2025. PMID: 40118124 Free article.
Perlecan is an essential multi-domain, disulfide bond rich basement membrane protein. Mutations in perlecan cause Schwartz-Jampel syndrome and dyssegmental dysplasia. While there has been a large body of experimental work reported on perlecan, there is only minimal …
Perlecan is an essential multi-domain, disulfide bond rich basement membrane protein. Mutations in perlecan cause Schwartz-Jampel …
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.
Brugnoni R, Marelli D, Iacomino N, Canioni E, Cappelletti C, Maggi L, Ardissone A. Brugnoni R, et al. Genes (Basel). 2023 Sep 2;14(9):1753. doi: 10.3390/genes14091753. Genes (Basel). 2023. PMID: 37761893 Free PMC article. Review.
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the HSPG2 gene encoding the protein perlecan, a major component of basement membranes. ...
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in t …
Schwartz-Jampel Syndrome Mimicking Myotonia Congenita.
Padmanabha H, Mathew T, Manjusha T. Padmanabha H, et al. Neurol India. 2019 Jul-Aug;67(4):1160-1162. doi: 10.4103/0028-3886.266261. Neurol India. 2019. PMID: 31512670 Free article. No abstract available.
Impact of the heparan sulfate proteoglycan perlecan on human disease and health.
Arikawa-Hirasawa E. Arikawa-Hirasawa E. Am J Physiol Cell Physiol. 2022 Jun 1;322(6):C1117-C1122. doi: 10.1152/ajpcell.00113.2022. Epub 2022 Apr 13. Am J Physiol Cell Physiol. 2022. PMID: 35417267 Free article. Review.
One is Silverman-Handmaker type dyssegmental dysplasia, resulting from the complete loss of function of the HSPG2 gene that encodes perlecan core protein, which is mapped to chromosome 1p36. The other is Schwartz-Jampel syndrome resulting from the partial loss of fu …
One is Silverman-Handmaker type dyssegmental dysplasia, resulting from the complete loss of function of the HSPG2 gene that encodes perlecan …
Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
Rajpal MK, Sedki FK, Eid TJ. Rajpal MK, et al. J Pharm Pract. 2024 Oct;37(5):1197-1198. doi: 10.1177/08971900231213694. Epub 2023 Nov 6. J Pharm Pract. 2024. PMID: 37931642
Schwartz Jampel syndrome (SJS) is a genetic disorder characterized by myotonia and chondrodysplasia. ...
Schwartz Jampel syndrome (SJS) is a genetic disorder characterized by myotonia and chondrodysplasia. ...
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
Gürbüz G, Albayrak HM. Gürbüz G, et al. Turk J Pediatr. 2019;61(6):967-970. doi: 10.24953/turkjped.2019.06.023. Turk J Pediatr. 2019. PMID: 32134596 Free article.
Gurbuz G, Mutlu Albayrak H. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. Turk J Pediatr 2019; 61: 967-970. Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessiv …
Gurbuz G, Mutlu Albayrak H. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel …
Herculean Boy With Facial Myokymia.
Sharawat IK, Kasinathan A, Suthar R, Sankhyan N. Sharawat IK, et al. Pediatr Neurol. 2019 Jul;96:79-80. doi: 10.1016/j.pediatrneurol.2019.02.011. Epub 2019 Feb 20. Pediatr Neurol. 2019. PMID: 30898413 No abstract available.
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