63 related articles for article (PubMed ID: 24755310)
1. A nationwide survey on Marinesco-Sjögren syndrome in Japan.
Goto M; Okada M; Komaki H; Sugai K; Sasaki M; Noguchi S; Nonaka I; Nishino I; Hayashi YK
Orphanet J Rare Dis; 2014 Apr; 9():58. PubMed ID: 24755310
[TBL] [Abstract][Full Text] [Related]
2. Loss of SIL1 Affects Actin Dynamics and Leads to Abnormal Neural Migration.
Xu Y; Sun H; Chen J; Qin L; Wu M; Zhong Z; Zhang X
Mol Neurobiol; 2024 Jun; ():. PubMed ID: 38850350
[TBL] [Abstract][Full Text] [Related]
3. Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.
Kashimada A; Hasegawa S; Isagai T; Uchiyama T; Matsuo M; Kawai M; Goto M; Morio T; Hayashi YK; Takagi M
J Neurol Sci; 2018 Feb; 385():49-56. PubMed ID: 29406913
[TBL] [Abstract][Full Text] [Related]
4. PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.
Grande V; Ornaghi F; Comerio L; Restelli E; Masone A; Corbelli A; Tolomeo D; Capone V; Axten JM; Laping NJ; Fiordaliso F; Sallese M; Chiesa R
Hum Mol Genet; 2018 Jul; 27(14):2477-2489. PubMed ID: 29718201
[TBL] [Abstract][Full Text] [Related]
5. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.
Gai N; Jiang C; Zou YY; Zheng Y; Liang DS; Wu LQ
Clin Chim Acta; 2016 Jul; 458():1-4. PubMed ID: 27106665
[TBL] [Abstract][Full Text] [Related]
6. SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.
Byrne S; Dlamini N; Lumsden D; Pitt M; Zaharieva I; Muntoni F; King A; Robert L; Jungbluth H
Neuromuscul Disord; 2015 Jul; 25(7):585-8. PubMed ID: 25958341
[TBL] [Abstract][Full Text] [Related]
7. Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R; Sallese M
Neuropathol Appl Neurobiol; 2020 Jun; 46(4):323-343. PubMed ID: 31701543
[TBL] [Abstract][Full Text] [Related]
8. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.
Gatz C; Hathazi D; Münchberg U; Buchkremer S; Labisch T; Munro B; Horvath R; Töpf A; Weis J; Roos A
Front Neurol; 2019; 10():562. PubMed ID: 31258504
[No Abstract] [Full Text] [Related]
9. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.
Noreau A; La Piana R; Marcoux C; ; Dion PA; Brais B; Bernard G; Rouleau GA
Neurogenetics; 2015 Oct; 16(4):315-8. PubMed ID: 26260654
[TBL] [Abstract][Full Text] [Related]
10. Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.
Cerami C; Tarantino P; Cupidi C; Annesi G; Lo Re V; Gagliardi M; Piccoli T; Quattrone A
J Neurol Sci; 2015 Jul; 354(1-2):112-3. PubMed ID: 25982182
[No Abstract] [Full Text] [Related]
11. An Eye on Movement Disorders.
Wilson D; Hallett M; Anderson T
Mov Disord Clin Pract; 2021 Nov; 8(8):1168-1180. PubMed ID: 34765682
[TBL] [Abstract][Full Text] [Related]
12. Functional Role of SIL1 in Neurodevelopment and Learning.
Xu S; Zhu J; Mi K; Shen Y; Zhang X
Neural Plast; 2019; 2019():9653024. PubMed ID: 31531014
[TBL] [Abstract][Full Text] [Related]
13. An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP.
Siegenthaler KD; Pareja KA; Wang J; Sevier CS
Elife; 2017 Mar; 6():. PubMed ID: 28257000
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T; Anzai M; Takezawa Y; Endo W; Kakisaka Y; Kikuchi A; Onuma A; Kure S; Nishino I; Ohba C; Saitsu H; Matsumoto N; Haginoya K
J Hum Genet; 2017 Jun; 62(6):653-655. PubMed ID: 28148925
[TBL] [Abstract][Full Text] [Related]
15. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.
Buchkremer S; González Coraspe JA; Weis J; Roos A
J Neuromuscul Dis; 2016 May; 3(2):169-181. PubMed ID: 27854219
[TBL] [Abstract][Full Text] [Related]
16. Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.
Kawahara G; Hayashi YK
PLoS One; 2016; 11(10):e0165563. PubMed ID: 27792754
[TBL] [Abstract][Full Text] [Related]
17. Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.
Nair P; Hamzeh AR; Mohamed M; Tawfiq N; Al-Ali MT; Bastaki F
Med Princ Pract; 2016; 25(6):580-582. PubMed ID: 27544240
[TBL] [Abstract][Full Text] [Related]
18. Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
Chamova T; Zlatareva D; Raycheva M; Bichev S; Kalaydjieva L; Tournev I
Behav Neurol; 2015; 2015():639539. PubMed ID: 26060356
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
