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 *

154 related articles for article (PubMed ID: 27829685)

  • 1. Late-onset episodic ataxia associated with SLC1A3 mutation.
    Choi KD; Jen JC; Choi SY; Shin JH; Kim HS; Kim HJ; Kim JS; Choi JH
    J Hum Genet; 2017 Mar; 62(3):443-446. PubMed ID: 27829685
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
    de Vries B; Mamsa H; Stam AH; Wan J; Bakker SL; Vanmolkot KR; Haan J; Terwindt GM; Boon EM; Howard BD; Frants RR; Baloh RW; Ferrari MD; Jen JC; van den Maagdenberg AM
    Arch Neurol; 2009 Jan; 66(1):97-101. PubMed ID: 19139306
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in SLC1A3 causes episodic ataxia.
    Iwama K; Iwata A; Shiina M; Mitsuhashi S; Miyatake S; Takata A; Miyake N; Ogata K; Ito S; Mizuguchi T; Matsumoto N
    J Hum Genet; 2018 Feb; 63(2):207-211. PubMed ID: 29208948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Disruption of an EAAT-Mediated Chloride Channel in a Drosophila Model of Ataxia.
    Parinejad N; Peco E; Ferreira T; Stacey SM; van Meyel DJ
    J Neurosci; 2016 Jul; 36(29):7640-7. PubMed ID: 27445142
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
    Jen JC; Wan J; Palos TP; Howard BD; Baloh RW
    Neurology; 2005 Aug; 65(4):529-34. PubMed ID: 16116111
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
    Chivukula AS; Suslova M; Kortzak D; Kovermann P; Fahlke C
    Hum Mutat; 2020 Nov; 41(11):1892-1905. PubMed ID: 32741053
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Episodic ataxias.
    Jen JC; Wan J
    Handb Clin Neurol; 2018; 155():205-215. PubMed ID: 29891059
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late onset hereditary episodic ataxia.
    Damak M; Riant F; Boukobza M; Tournier-Lasserve E; Bousser MG; Vahedi K
    J Neurol Neurosurg Psychiatry; 2009 May; 80(5):566-8. PubMed ID: 19372292
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.
    Winter N; Kovermann P; Fahlke C
    Brain; 2012 Nov; 135(Pt 11):3416-25. PubMed ID: 23107647
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.
    de Vries B; Haan J; Stam AH; Vanmolkot KR; Stroink H; Laan LA; Gill DS; Pascual J; Frants RR; van den Maagdenberg AM; Ferrari MD
    Neuropediatrics; 2006 Oct; 37(5):302-4. PubMed ID: 17236110
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
    Matsuyama Z; Murase M; Shimizu H; Aoki Y; Hayashi M; Hozumi I; Inuzuka T
    J Neurol Sci; 2003 Jun; 210(1-2):91-3. PubMed ID: 12736095
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A sporadic case of episodic ataxia with nystagmus (EA-2)].
    Namekawa M; Takiyama Y; Ueno N; Nishizawa M
    Rinsho Shinkeigaku; 1998 May; 38(5):446-9. PubMed ID: 9805992
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic Variants Associated with Episodic Ataxia in Korea.
    Choi KD; Kim JS; Kim HJ; Jung I; Jeong SH; Lee SH; Kim DU; Kim SH; Choi SY; Shin JH; Kim DS; Park KP; Kim HS; Choi JH
    Sci Rep; 2017 Oct; 7(1):13855. PubMed ID: 29062094
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Missense CACNA1A mutation causing episodic ataxia type 2.
    Denier C; Ducros A; Durr A; Eymard B; Chassande B; Tournier-Lasserve E
    Arch Neurol; 2001 Feb; 58(2):292-5. PubMed ID: 11176968
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic and functional studies of a missense variant in a glutamate transporter, SLC1A3, in Tourette syndrome.
    Adamczyk A; Gause CD; Sattler R; Vidensky S; Rothstein JD; Singer H; Wang T
    Psychiatr Genet; 2011 Apr; 21(2):90-7. PubMed ID: 21233784
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.
    Scoggan KA; Friedman JH; Bulman DE
    Can J Neurol Sci; 2006 Feb; 33(1):68-72. PubMed ID: 16583725
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Impaired K
    Kovermann P; Hessel M; Kortzak D; Jen JC; Koch J; Fahlke C; Freilinger T
    Sci Rep; 2017 Oct; 7(1):13913. PubMed ID: 29066757
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
    Cricchi F; Di Lorenzo C; Grieco GS; Rengo C; Cardinale A; Racaniello M; Santorelli FM; Nappi G; Pierelli F; Casali C
    J Neurol Sci; 2007 Mar; 254(1-2):69-71. PubMed ID: 17292920
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.
    Wu Q; Akhter A; Pant S; Cho E; Zhu JX; Garner A; Ohyama T; Tajkhorshid E; van Meyel DJ; Ryan RM
    J Clin Invest; 2022 Apr; 132(7):. PubMed ID: 35167492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Hereditary episodic ataxia].
    Riant F; Vahedi K; Tournier-Lasserve E
    Rev Neurol (Paris); 2011 May; 167(5):401-7. PubMed ID: 21492892
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.