首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
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 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
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
[Marinesco-Sjogren syndrome].
Saitoh S.
Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):145-6.
PMID:11528665
[Marinesco Sjogren syndrome].
Komiyama A, Kuroiwa Y.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):299-302.
PMID:10434657
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.
PMID:23062754
[Abnormal corticogenesis in Marinesco-Sjogren syndrome].
Hamada N, Inaguma Y, Nagata K.
Seikagaku. 2015 Apr;87(2):205-8.
PMID:26571577
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
Marinesco-Sjogren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.
Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S.
Nat Neurosci. 2015 Feb;18(2):227-38. doi: 10.1038/nn.3903. Epub 2015 Jan 5.
PMID:25559081
Characterization of Zebrafish Models of Marinesco-Sjogren Syndrome.
Kawahara G, Hayashi YK.
PLoS One. 2016 Oct 28;11(10):e0165563. doi: 10.1371/journal.pone.0165563. eCollection 2016.
PMID:27792754
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3