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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 8345957)

  • 1. Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families.
    Dotti MT; Bardelli AM; De Stefano N; Federico A; Malandrini A; Vanni M; Guazzi GC
    Ophthalmic Paediatr Genet; 1993 Mar; 14(1):5-7. PubMed ID: 8345957
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren 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. PubMed ID: 34075802
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.
    Schulz S; Vielhaber S; Muschke P; Mohnike K; Gooding R; Wieacker P
    Neuropediatrics; 2007 Apr; 38(2):88-90. PubMed ID: 17712737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
    Merlini L; Gooding R; Lochmüller H; Müller-Felber W; Walter MC; Angelicheva D; Talim B; Hallmayer J; Kalaydjieva L
    Neurology; 2002 Jan; 58(2):231-6. PubMed ID: 11805249
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neuro-otological findings in a case of Marinesco-Sjögren syndrome with nystagmus.
    Yoshimoto Y
    Auris Nasus Larynx; 1987; 14(3):171-6. PubMed ID: 3482781
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MR imaging features in Marinesco-Sjögren 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. PubMed ID: 12748078
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Marinesco-Sjogren syndrome with dominant inheritance--case report].
    Martynów R
    Neurol Neurochir Pol; 1991; 25(1):114-8. PubMed ID: 2034323
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [A familial strain of 11 cases of the Marinesco-Sjögren syndrome].
    Gayral L; Gayral J
    J Genet Hum; 1966 Jun; 15(1):63-9. PubMed ID: 5963515
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.
    Williams TE; Buchhalter JR; Sussman MD
    Pediatr Neurol; 1996 Feb; 14(2):158-61. PubMed ID: 8703231
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
    Eriguchi M; Mizuta H; Kurohara K; Fujitake J; Kuroda Y
    J Neurol Sci; 2008 Jul; 270(1-2):197-200. PubMed ID: 18395226
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.