These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Hereditary cerebellar ataxia associated with congenital cataracts. 4 cases of the Marinesco-Sjögren syndrome with some unusual features. Nyberg-Hansen R; Gronvik O Acta Neurol Scand Suppl; 1972; 51():257-60. PubMed ID: 4514347 [No Abstract] [Full Text] [Related]
6. The Marinesco-Sjögren syndrome described a quarter of a century before Marinesco. Superneau D; Wertelecki W; Zellweger H Am J Med Genet; 1985 Nov; 22(3):647-8. PubMed ID: 3904448 [No Abstract] [Full Text] [Related]
7. 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]
8. Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. Skre H; Berg K Clin Genet; 1977 Jan; 11(1):57-66. PubMed ID: 830450 [TBL] [Abstract][Full Text] [Related]
9. [Marinesco-Sjögren syndrome]. Yvonneau M; Dupouy F Encephale; 1977; 3(2):165-72. PubMed ID: 891457 [TBL] [Abstract][Full Text] [Related]
10. Marinesco-Sjögren 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; 133A(2):197-201. PubMed ID: 15633176 [TBL] [Abstract][Full Text] [Related]
11. Marinesco-Sjögren syndrome. Report of an autopsy. Mahloudji M; Amirhakimi GH; Haghighi P; Khodadoust AA Brain; 1972; 95(4):675-80. PubMed ID: 4647150 [No Abstract] [Full Text] [Related]
13. Four patients with a new lysosomal storage disorder (Salla disease). Aula P; Raivio K; Autio S; Thoden CE; Rapola J; Koskela SL; Yamashina I Monogr Hum Genet; 1978; 10():16-22. PubMed ID: 723890 [No Abstract] [Full Text] [Related]
14. [Cliniconeurological study of 2 cases of Marinesco-Sjögren syndrome in a family]. Santa T; Araki S; Terao A; Kuroiwa Y No To Shinkei; 1969 Jul; 21(7):821-6. PubMed ID: 5820396 [No Abstract] [Full Text] [Related]
15. Possible linkage between the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism. Berg K; Skre H Cytogenet Cell Genet; 1976; 16(1-5):271-4. PubMed ID: 975888 [No Abstract] [Full Text] [Related]
16. The Marinesco-Sjögren syndrome: polygraphic study of nocturnal sleep. Bramanti P; Ricci RM; Benedetto M; Candela L; Bagalà S; Di Perri R Acta Neurol (Napoli); 1985 Feb; 7(1):8-13. PubMed ID: 3993461 [No Abstract] [Full Text] [Related]
17. [Muscle involvement in patients with Marinesco-Sjögren syndrome: with reference to clinical manifestations of adult patients]. Komiyama A; Kawamura M; Hirayama K Rinsho Shinkeigaku; 1985 Oct; 25(10):1131-40. PubMed ID: 4092387 [No Abstract] [Full Text] [Related]
18. Sensorimotor neuropathy in a patient with Marinesco-Sjögren syndrome. Alexianu M; Christodorescu D; Vasilescu C; Dan A; Petrovici A; Măgureanu S; Savu C Eur Neurol; 1983; 22(3):222-6. PubMed ID: 6305664 [TBL] [Abstract][Full Text] [Related]