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Marinesco Sjogren syndrome相关文献:
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.
PMID:31701543
[Marinesco-Sjogren syndrome].
Saitoh S.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):145-6.
PMID:11528665
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.
PMID:15633176
[Marinesco Sjogren syndrome].
Komiyama A, Kuroiwa Y.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):299-302.
PMID:10434657
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.
PMID:34075802
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.
PMID:12748078
Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjogren Syndrome.
Bellia F, Federici L, Gatta V, Calabrese G, Sallese M.
Int J Mol Sci. 2025 Jul 14;26(14):6736. doi: 10.3390/ijms26146736.
PMID:40724984
[Abnormal corticogenesis in Marinesco-Sjogren syndrome].
Hamada N, Inaguma Y, Nagata K.
Seikagaku. 2015 Apr;87(2):205-8.
PMID:26571577
Myopathy in Marinesco-Sjogren syndrome.
Superneau DW, Wertelecki W, Zellweger H, Bastian F.
Eur Neurol. 1987;26(1):8-16. doi: 10.1159/000116305.
PMID:3469098
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.
PMID:34830330
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