BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

340 related articles for article (PubMed ID: 21827899)

  • 1. Other autosomal recessive and childhood ataxias.
    De Michele G; Filla A
    Handb Clin Neurol; 2012; 103():343-57. PubMed ID: 21827899
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G; Lalani I; Amouri R; Turki I; Ouahchi K; Hung WY; Belal S; Siddique T; Hentati F
    Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.
    Pedroso JL; Braga-Neto P; Ricarte IF; Albuquerque MV; Barsottini OG
    Arq Neuropsiquiatr; 2013 Jun; 71(6):345-8. PubMed ID: 23828538
    [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. [Autosomal recessive cerebellar ataxias].
    Anheim M
    Rev Neurol (Paris); 2011 May; 167(5):372-84. PubMed ID: 21087783
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.
    Gribaa M; Salih M; Anheim M; Lagier-Tourenne C; H'mida D; Drouot N; Mohamed A; Elmalik S; Kabiraj M; Al-Rayess M; Almubarak M; Bétard C; Goebel H; Koenig M
    Brain; 2007 Jul; 130(Pt 7):1921-8. PubMed ID: 17470496
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y; Amouri R; El Euch-Fayeche G; Hentati F
    Parkinsonism Relat Disord; 2011 Jul; 17(6):418-22. PubMed ID: 21450511
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
    Verhoeven WM; Egger JI; Ahmed AI; Kremer BP; Vermeer S; van de Warrenburg BP
    Psychopathology; 2012; 45(3):193-9. PubMed ID: 22441213
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
    Divya KP; Cherian A; Dhing HK; Kumar S; Thomas B; Faruq M
    Acta Neurol Belg; 2024 Apr; 124(2):475-484. PubMed ID: 37898963
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
    Narayanan V; Rice SG; Olfers SS; Sivakumar K
    J Child Neurol; 2011 Dec; 26(12):1585-9. PubMed ID: 21745802
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
    Bouhlal Y; El-Euch-Fayeche G; Amouri R; Hentati F
    Acta Myol; 2005 Oct; 24(2):155-61. PubMed ID: 16550933
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal recessive cerebellar ataxias.
    Palau F; Espinós C
    Orphanet J Rare Dis; 2006 Nov; 1():47. PubMed ID: 17112370
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration.
    Wolf NI; Koenig M
    Handb Clin Neurol; 2013; 113():1869-78. PubMed ID: 23622410
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
    Mrissa N; Belal S; Hamida CB; Amouri R; Turki I; Mrissa R; Hamida MB; Hentati F
    Neurology; 2000 Apr; 54(7):1408-14. PubMed ID: 10751248
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
    Engert JC; Bérubé P; Mercier J; Doré C; Lepage P; Ge B; Bouchard JP; Mathieu J; Melançon SB; Schalling M; Lander ES; Morgan K; Hudson TJ; Richter A
    Nat Genet; 2000 Feb; 24(2):120-5. PubMed ID: 10655055
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.