154 related articles for article (PubMed ID: 3469098)
1. Myopathy in Marinesco-Sjogren syndrome.
Superneau DW; Wertelecki W; Zellweger H; Bastian F
Eur Neurol; 1987; 26(1):8-16. PubMed ID: 3469098
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva.
Zimmer C; Gosztonyi G; Cervos-Navarro J; von Moers A; Schröder JM
Neuropediatrics; 1992 Dec; 23(6):329-35. PubMed ID: 1491754
[TBL] [Abstract][Full Text] [Related]
4. Muscle pathology in Marinesco-Sjögren syndrome.
Komiyama A; Nonaka I; Hirayama K
J Neurol Sci; 1989 Jan; 89(1):103-13. PubMed ID: 2522540
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
7. Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.
Mahjneh I; Anttonen AK; Somer M; Paetau A; Lehesjoki AE; Somer H; Udd B
J Neurol; 2006 Mar; 253(3):301-6. PubMed ID: 16151599
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Myopathy in Marinesco-Sjögren syndrome: an electrophysiological study.
Torbergsen T; Stålberg E; Aasly J; Lindal S
Acta Neurol Scand; 1991 Aug; 84(2):132-8. PubMed ID: 1659103
[TBL] [Abstract][Full Text] [Related]
10. Orthopaedic manifestations of Marinesco-Sjögren syndrome.
Reinker K; Hsia YE; Rimoin DL; Henry G; Yuen J; Powell B; Wilcox WR
J Pediatr Orthop; 2002; 22(3):399-403. PubMed ID: 11961464
[TBL] [Abstract][Full Text] [Related]
11. Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease.
Müller-Felber W; Zafiriou D; Scheck R; Pätzke I; Toepfer M; Pongratz DE; Walther U
Neuropediatrics; 1998 Apr; 29(2):97-101. PubMed ID: 9638664
[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. A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.
Herva R; von Wendt L; von Wendt G; Saukkonen AL; Leisti J; Dubowitz V
Neuropediatrics; 1987 Aug; 18(3):164-9. PubMed ID: 3683758
[TBL] [Abstract][Full Text] [Related]
14. Marinesco-Sjögren syndrome: report of one case.
Chou YH; Lin MY; Wang PJ; Wang TR; Shen YZ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1992; 33(3):212-7. PubMed ID: 1514415
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome.
Sewry CA; Voit T; Dubowitz V
Ann Neurol; 1988 Oct; 24(4):576-80. PubMed ID: 3239958
[TBL] [Abstract][Full Text] [Related]
17. Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.
Sakai K; Tada M; Yonemochi Y; Nakajima T; Onodera O; Takahashi H; Kakita A
Neuropathology; 2008 Oct; 28(5):541-6. PubMed ID: 18410272
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]
