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2. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Krieger M; Roos A; Stendel C; Claeys KG; Sonmez FM; Baudis M; Bauer P; Bornemann A; de Goede C; Dufke A; Finkel RS; Goebel HH; Häussler M; Kingston H; Kirschner J; Medne L; Muschke P; Rivier F; Rudnik-Schöneborn S; Spengler S; Inzana F; Stanzial F; Benedicenti F; Synofzik M; Lia Taratuto A; Pirra L; Tay SK; Topaloglu H; Uyanik G; Wand D; Williams D; Zerres K; Weis J; Senderek J Brain; 2013 Dec; 136(Pt 12):3634-44. PubMed ID: 24176978 [TBL] [Abstract][Full Text] [Related]
3. Heterogeneity of Marinesco-Sjögren syndrome: report of two cases. Yiş U; Cirak S; Hız S; Cakmakçı H; Dirik E Pediatr Neurol; 2011 Dec; 45(6):409-11. PubMed ID: 22115007 [TBL] [Abstract][Full Text] [Related]
4. Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia. Fukuda S; Yamada Y; Nishimura M; Isogai K; Terada T; Iwata M; Shimozawa N; Suzuki Y; Kondo N Clin Genet; 1997 Apr; 51(4):278-80. PubMed ID: 9184254 [TBL] [Abstract][Full Text] [Related]
5. [Marinesco-Sjögren syndrome--report of two patients in a family with muscle CT study]. Higuchi S; Taku K; Fukuhara N; Hozumi I; Yamazaki M Rinsho Shinkeigaku; 1993 Jan; 33(1):89-91. PubMed ID: 8334784 [TBL] [Abstract][Full Text] [Related]
6. A case of Marinesco-Sjögren syndrome: MRI observations of skeletal muscles, bone metabolism, and treatment with testosterone and risedronate. Fujitake J; Komatsu Y; Hataya Y; Nishikawa A; Eriguchi M; Mizuta H; Hayashi M Intern Med; 2011; 50(2):145-9. PubMed ID: 21245640 [TBL] [Abstract][Full Text] [Related]
7. Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle. Kodama S; Komatsu M; Miyoshi M; Nakao H; Sakurai T; U M Kobe J Med Sci; 1992 Aug; 38(4):245-54. PubMed ID: 1335096 [TBL] [Abstract][Full Text] [Related]
8. Marinesco-Sjögren 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. PubMed ID: 23062754 [TBL] [Abstract][Full Text] [Related]
9. [Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation]. Berio A; Piazzi A Pediatr Med Chir; 1996; 18(1):99-103. PubMed ID: 8685033 [TBL] [Abstract][Full Text] [Related]
10. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Anttonen AK; Mahjneh I; Hämäläinen RH; Lagier-Tourenne C; Kopra O; Waris L; Anttonen M; Joensuu T; Kalimo H; Paetau A; Tranebjaerg L; Chaigne D; Koenig M; Eeg-Olofsson O; Udd B; Somer M; Somer H; Lehesjoki AE Nat Genet; 2005 Dec; 37(12):1309-11. PubMed ID: 16282978 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967 [TBL] [Abstract][Full Text] [Related]
13. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek J; Krieger M; Stendel C; Bergmann C; Moser M; Breitbach-Faller N; Rudnik-Schöneborn S; Blaschek A; Wolf NI; Harting I; North K; Smith J; Muntoni F; Brockington M; Quijano-Roy S; Renault F; Herrmann R; Hendershot LM; Schröder JM; Lochmüller H; Topaloglu H; Voit T; Weis J; Ebinger F; Zerres K Nat Genet; 2005 Dec; 37(12):1312-4. PubMed ID: 16282977 [TBL] [Abstract][Full Text] [Related]
14. Neuroradiologic findings in Marinesco-Sjögren syndrome. Georgy BA; Snow RD; Brogdon BG; Wertelecki W AJNR Am J Neuroradiol; 1998 Feb; 19(2):281-3. PubMed ID: 9504478 [TBL] [Abstract][Full Text] [Related]
19. Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children. McLaughlin JF; Pagon RA; Weinberger E; Haas JE Dev Med Child Neurol; 1996 Apr; 38(4):363-70. PubMed ID: 8641542 [TBL] [Abstract][Full Text] [Related]
20. Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children. McLaughlin JF; Pagon RA; Weinberger E; Haas JE Dev Med Child Neurol; 1996 Jul; 38(7):636-44. PubMed ID: 8674914 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]