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 *

211 related articles for article (PubMed ID: 25762895)

  • 1. Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.
    Giunti P; Mantuano E; Frontali M; Veneziano L
    Front Cell Neurosci; 2015; 9():36. PubMed ID: 25762895
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
    Tonelli A; D'Angelo MG; Salati R; Villa L; Germinasi C; Frattini T; Meola G; Turconi AC; Bresolin N; Bassi MT
    J Neurol Sci; 2006 Feb; 241(1-2):13-7. PubMed ID: 16325861
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?
    Frontali M
    Brain Res Bull; 2001 Oct-Nov 1; 56(3-4):227-31. PubMed ID: 11719255
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
    Bürk K; Kaiser FJ; Tennstedt S; Schöls L; Kreuz FR; Wieland T; Strom TM; Büttner T; Hollstein R; Braunholz D; Plaschke J; Gillessen-Kaesbach G; Zühlke C
    Eur J Med Genet; 2014 Apr; 57(5):207-11. PubMed ID: 24486772
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Molecular physiopathology of the spinocerebellar ataxia type 6 (SCA6)].
    Cervantes-Kardasch VH; García-Martínez E
    Rev Invest Clin; 2004; 56(3):368-74. PubMed ID: 15612520
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
    Jodice C; Mantuano E; Veneziano L; Trettel F; Sabbadini G; Calandriello L; Francia A; Spadaro M; Pierelli F; Salvi F; Ophoff RA; Frants RR; Frontali M
    Hum Mol Genet; 1997 Oct; 6(11):1973-8. PubMed ID: 9302278
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.
    Pradotto L; Mencarelli M; Bigoni M; Milesi A; Di Blasio A; Mauro A
    J Neurol Sci; 2016 Dec; 371():81-84. PubMed ID: 27871455
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
    Indelicato E; Nachbauer W; Karner E; Eigentler A; Wagner M; Unterberger I; Poewe W; Delazer M; Boesch S
    Eur J Neurol; 2019 Jan; 26(1):66-e7. PubMed ID: 30063100
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells.
    Bavassano C; Eigentler A; Stanika R; Obermair GJ; Boesch S; Dechant G; Nat R
    Stem Cells Dev; 2017 Nov; 26(22):1612-1625. PubMed ID: 28946818
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
    Alonso I; Barros J; Tuna A; Coelho J; Sequeiros J; Silveira I; Coutinho P
    Arch Neurol; 2003 Apr; 60(4):610-4. PubMed ID: 12707077
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
    Mantuano E; Veneziano L; Jodice C; Frontali M
    Cytogenet Genome Res; 2003; 100(1-4):147-53. PubMed ID: 14526175
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    García Segarra N; Gautschi I; Mittaz-Crettol L; Kallay Zetchi C; Al-Qusairi L; Van Bemmelen MX; Maeder P; Bonafé L; Schild L; Roulet-Perez E
    J Neurol Sci; 2014 Jul; 342(1-2):69-78. PubMed ID: 24836863
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
    Koh SH; Kim HT; Kim SH; Lee GY; Kim J; Kim MH
    J Korean Med Sci; 2001 Dec; 16(6):809-13. PubMed ID: 11748369
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
    Restituito S; Thompson RM; Eliet J; Raike RS; Riedl M; Charnet P; Gomez CM
    J Neurosci; 2000 Sep; 20(17):6394-403. PubMed ID: 10964945
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CaV2.1 channelopathies.
    Pietrobon D
    Pflugers Arch; 2010 Jul; 460(2):375-93. PubMed ID: 20204399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular pathogenesis of spinocerebellar ataxia type 6.
    Kordasiewicz HB; Gomez CM
    Neurotherapeutics; 2007 Apr; 4(2):285-94. PubMed ID: 17395139
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.
    Sinke RJ; Ippel EF; Diepstraten CM; Beemer FA; Wokke JH; van Hilten BJ; Knoers NV; van Amstel HK; Kremer HP
    Arch Neurol; 2001 Nov; 58(11):1839-44. PubMed ID: 11708993
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
    Maksemous N; Roy B; Smith RA; Griffiths LR
    Mol Genet Genomic Med; 2016 Mar; 4(2):211-22. PubMed ID: 27066515
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial hemiplegic migraine type 1 associated with parkinsonism: a case report.
    Bruun M; Hjermind LE; Thomsen C; Danielsen E; Thomsen LL; Pinborg LH; Khabbazbavani N; Nielsen JE
    Case Rep Neurol; 2015; 7(1):84-9. PubMed ID: 25969684
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
    Ducros A; Denier C; Joutel A; Vahedi K; Michel A; Darcel F; Madigand M; Guerouaou D; Tison F; Julien J; Hirsch E; Chedru F; Bisgård C; Lucotte G; Després P; Billard C; Barthez MA; Ponsot G; Bousser MG; Tournier-Lasserve E
    Am J Hum Genet; 1999 Jan; 64(1):89-98. PubMed ID: 9915947
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.