BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

116 related articles for article (PubMed ID: 21827917)

  • 1. Spinocerebellar ataxia type 28.
    Mariotti C; Bella DD; Di Donato S; Taroni F
    Handb Clin Neurol; 2012; 103():575-9. PubMed ID: 21827917
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
    Mariotti C; Brusco A; Di Bella D; Cagnoli C; Seri M; Gellera C; Di Donato S; Taroni F
    Cerebellum; 2008; 7(2):184-8. PubMed ID: 18769991
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
    Stevanin G; Hahn V; Lohmann E; Bouslam N; Gouttard M; Soumphonphakdy C; Welter ML; Ollagnon-Roman E; Lemainque A; Ruberg M; Brice A; Durr A
    Arch Neurol; 2004 Aug; 61(8):1242-8. PubMed ID: 15313841
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
    Cagnoli C; Mariotti C; Taroni F; Seri M; Brussino A; Michielotto C; Grisoli M; Di Bella D; Migone N; Gellera C; Di Donato S; Brusco A
    Brain; 2006 Jan; 129(Pt 1):235-42. PubMed ID: 16251216
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evidence for a new spinocerebellar ataxia locus.
    Higgins JJ; Pho LT; Ide SE; Nee LE; Polymeropoulos MH
    Mov Disord; 1997 May; 12(3):412-7. PubMed ID: 9159738
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Spinocerebellar ataxia 1--clinical study of 17 patients in a large pedigree].
    Sasaki H; Wakisaka A; Koyama T; Hamada T; Shima K; Tashiro K; Hashimoto K; Miyagishi T
    No To Shinkei; 1993 Jun; 45(6):502-8. PubMed ID: 8363844
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
    Yu GY; Howell MJ; Roller MJ; Xie TD; Gomez CM
    Ann Neurol; 2005 Mar; 57(3):349-54. PubMed ID: 15732118
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spinocerebellar ataxia 13 and 25.
    Stevanin G; Dürr A
    Handb Clin Neurol; 2012; 103():549-53. PubMed ID: 21827913
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
    Gomez CM; Thompson RM; Gammack JT; Perlman SL; Dobyns WB; Truwit CL; Zee DS; Clark HB; Anderson JH
    Ann Neurol; 1997 Dec; 42(6):933-50. PubMed ID: 9403487
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.
    Grewal RP; Tayag E; Figueroa KP; Zu L; Durazo A; Nunez C; Pulst SM
    Neurology; 1998 Nov; 51(5):1423-6. PubMed ID: 9818872
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
    Hiramoto K; Kawakami H; Inoue K; Seki T; Maruyama H; Morino H; Matsumoto M; Kurisu K; Sakai N
    Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
    Koht J; Stevanin G; Durr A; Mundwiller E; Brice A; Tallaksen CM
    Acta Neurol Scand; 2012 Feb; 125(2):116-22. PubMed ID: 21434874
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
    Matilla T; McCall A; Subramony SH; Zoghbi HY
    Ann Neurol; 1995 Jul; 38(1):68-72. PubMed ID: 7611728
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
    Delplanque J; Devos D; Huin V; Genet A; Sand O; Moreau C; Goizet C; Charles P; Anheim M; Monin ML; Buée L; Destée A; Grolez G; Delmaire C; Dujardin K; Dellacherie D; Brice A; Stevanin G; Strubi-Vuillaume I; Dürr A; Sablonnière B
    Brain; 2014 Oct; 137(Pt 10):2657-63. PubMed ID: 25070513
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinico-genetic study of type I spinocerebelllar ataxia].
    Svetel M; Culjković B; Sternić N; Dragasević B; Stojković I; Romac S; Kostić VS
    Srp Arh Celok Lek; 1999; 127(5-6):157-62. PubMed ID: 10500422
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
    Musova Z; Kaiserova M; Kriegova E; Fillerova R; Vasovcak P; Santava A; Mensikova K; Zumrova A; Krepelova A; Sedlacek Z; Kanovsky P
    Cerebellum; 2014 Jun; 13(3):331-7. PubMed ID: 24272953
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
    Klebe S; Durr A; Rentschler A; Hahn-Barma V; Abele M; Bouslam N; Schöls L; Jedynak P; Forlani S; Denis E; Dussert C; Agid Y; Bauer P; Globas C; Wüllner U; Brice A; Riess O; Stevanin G
    Ann Neurol; 2005 Nov; 58(5):720-9. PubMed ID: 16193476
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.
    Sato K; Yabe I; Fukuda Y; Soma H; Nakahara Y; Tsuji S; Sasaki H
    Arch Neurol; 2010 Oct; 67(10):1257-62. PubMed ID: 20937954
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
    Cagnoli C; Stevanin G; Brussino A; Barberis M; Mancini C; Margolis RL; Holmes SE; Nobili M; Forlani S; Padovan S; Pappi P; Zaros C; Leber I; Ribai P; Pugliese L; Assalto C; Brice A; Migone N; Dürr A; Brusco A
    Hum Mutat; 2010 Oct; 31(10):1117-24. PubMed ID: 20725928
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.