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 *

131 related articles for article (PubMed ID: 10434657)

  • 1. [Marinesco Sjögren syndrome].
    Komiyama A; Kuroiwa Y
    Ryoikibetsu Shokogun Shirizu; 1999; (27 Pt 2):299-302. PubMed ID: 10434657
    [No Abstract]   [Full Text] [Related]  

  • 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: 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]  

  • 5. Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation?
    Shimizu T; Matsuishi T; Yamashita Y; Koga Y; Ohtaki E; Kato H; Goto Y; Nonaka I
    Muscle Nerve; 1997 Jul; 20(7):909-10. PubMed ID: 9179171
    [No 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Marinesco-Sjögren syndrome in a Bedouin family.
    Farah S; Sabry MA; Khuraibet AJ; Anim JT; Quasrawi B; Al-Khatam S; Al-Busairi W; Hussein JM; Khan RA; Al-Awadi SA
    Acta Neurol Scand; 1997 Dec; 96(6):387-91. PubMed ID: 9449477
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
    Van Raamsdonk JM
    Clin Genet; 2006 May; 69(5):399-400. PubMed ID: 16650075
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Mitochondrial myopathy in six patients with Marinesco-Sjøgren syndrome.
    Borud O; Aasly J; Lindal S
    Prog Clin Biol Res; 1989; 306():135-9. PubMed ID: 2740407
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.
    Aguglia U; Annesi G; Pasquinelli G; Spadafora P; Gambardella A; Annesi F; Pasqua AA; Cavalcanti F; Crescibene L; Bagalà A; Bono F; Oliveri RL; Valentino P; Zappia M; Quattrone A
    Ann Neurol; 2000 Feb; 47(2):260-4. PubMed ID: 10665502
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [62 year-old female with cerebellar ataxia and vertical gaze palsy].
    Nagashima Y
    Brain Nerve; 2008 Jun; 60(6):687-96. PubMed ID: 18567366
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.