Review: Protein misfolding diseases - the rare case of Marinesco-Sjogren syndrome.
Chiesa R, Sallese M.
Neuropathol Appl Neurobiol. 2020 Jun;46(4):323-343. doi: 10.1111/nan.12588.
Marinesco-Sjogren syndrome in a male with mild dysmorphism.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E.
Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504.
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S.
Eur J Ophthalmol. 2022 May;32(3):NP92-NP97. doi: 10.1177/11206721211021291. Epub 2021 Jun 2.
[Marinesco-Sjogren syndrome].
Saitoh S.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):145-6.
Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjogren syndrome.
Amodei L, Ruggieri AG, Potenza F, Viele M, Dufrusine B, Franciotti R, Pietrangelo L, Ardini M, Stuppia L, Federici L, De Laurenzi V, Sallese M.
J Transl Med. 2024 Aug 23;22(1):787. doi: 10.1186/s12967-024-05582-0.
[Marinesco Sjogren syndrome].
Komiyama A, Kuroiwa Y.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):299-302.
Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Horvers M, Anttonen AK, Lehesjoki AE, Morava E, Wortmann S, Vermeer S, van de Warrenburg BP, Willemsen MA.
Eur J Paediatr Neurol. 2013 Mar;17(2):199-203. doi: 10.1016/j.ejpn.2012.09.007. Epub 2012 Oct 11.
MR imaging features in Marinesco-Sjogren syndrome: severe cerebellar atrophy is not an obligatory finding.
Reinhold A, Scheer I, Lehmann R, Neumann LM, Michael T, Varon R, Von Moers A.
AJNR Am J Neuroradiol. 2003 May;24(5):825-8.
[Abnormal corticogenesis in Marinesco-Sjogren syndrome].
Hamada N, Inaguma Y, Nagata K.
Seikagaku. 2015 Apr;87(2):205-8.
Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.
Potenza F, Cufaro MC, Di Biase L, Panella V, Di Campli A, Ruggieri AG, Dufrusine B, Restelli E, Pietrangelo L, Protasi F, Pieragostino D, De Laurenzi V, Federici L, Chiesa R, Sallese M.
Int J Mol Sci. 2021 Nov 18;22(22):12449. doi: 10.3390/ijms222212449.
