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 *

209 related articles for article (PubMed ID: 19232643)

  • 61. Rare CACNA1A mutations leading to congenital ataxia.
    Izquierdo-Serra M; Fernández-Fernández JM; Serrano M
    Pflugers Arch; 2020 Jul; 472(7):791-809. PubMed ID: 32458086
    [TBL] [Abstract][Full Text] [Related]  

  • 62. 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]  

  • 63. Novel CACNA1A mutation(s) associated with slow saccade velocities.
    Kipfer S; Jung S; Lemke JR; Kipfer-Kauer A; Howell JP; Kaelin-Lang A; Nyffeler T; Gutbrod K; Abicht A; Müri RM
    J Neurol; 2013 Dec; 260(12):3010-4. PubMed ID: 24046065
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Identification of CACNA1A large deletions in four patients with episodic ataxia.
    Riant F; Lescoat C; Vahedi K; Kaphan E; Toutain A; Soisson T; Wiener-Vacher SR; Tournier-Lasserve E
    Neurogenetics; 2010 Feb; 11(1):101-6. PubMed ID: 19633872
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
    Choi KD; Yook JW; Kim MJ; Kim HS; Park YE; Kim JS; Choi JH; Shin JH; Kim DS
    Neurol Sci; 2013 Sep; 34(9):1629-32. PubMed ID: 23344743
    [TBL] [Abstract][Full Text] [Related]  

  • 66. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
    Ohmori I; Ouchida M; Miki T; Mimaki N; Kiyonaka S; Nishiki T; Tomizawa K; Mori Y; Matsui H
    Neurobiol Dis; 2008 Dec; 32(3):349-54. PubMed ID: 18755274
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.
    Sivák Š; Kurča E; Krajčiová A; Hikkelová M; Šimko J; Mišovicová N; Kantorová E; Turčanová-Koprušáková M; Burjanivová T; Čierny D; Nosál' V
    J Neurol Sci; 2017 May; 376():119-120. PubMed ID: 28431595
    [No Abstract]   [Full Text] [Related]  

  • 68. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.
    Bomar JM; Benke PJ; Slattery EL; Puttagunta R; Taylor LP; Seong E; Nystuen A; Chen W; Albin RL; Patel PD; Kittles RA; Sheffield VC; Burmeister M
    Nat Genet; 2003 Nov; 35(3):264-9. PubMed ID: 14556008
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
    Nachbauer W; Nocker M; Karner E; Stankovic I; Unterberger I; Eigentler A; Schneider R; Poewe W; Delazer M; Boesch S
    J Neurol; 2014 May; 261(5):983-91. PubMed ID: 24658662
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A; Yamagata T; Mori M; Momoi MY
    Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Clinical features and
    Xu Y; Wang Z; Sun Q; Zhou L; Xu H; Hu Y
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 47(6):801-808. PubMed ID: 35837781
    [TBL] [Abstract][Full Text] [Related]  

  • 72. New mutation of CACNA1A gene in episodic ataxia type 2.
    Nikaido K; Tachi N; Ohya K; Wada T; Tsutsumi H
    Pediatr Int; 2011 Jun; 53(3):415-6. PubMed ID: 21696515
    [No Abstract]   [Full Text] [Related]  

  • 73. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
    Thomsen LL; Oestergaard E; Bjornsson A; Stefansson H; Fasquel AC; Gulcher J; Stefansson K; Olesen J
    Cephalalgia; 2008 Sep; 28(9):914-21. PubMed ID: 18513263
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.
    Zhu CH; Yu JY; Ma Y; Dong Y; Wu ZY
    Cerebellum; 2024 Oct; 23(5):2197-2204. PubMed ID: 38869769
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
    Volkers L; Rook MB; Das JH; Verbeek NE; Groenewegen WA; van Kempen MJ; Lindhout D; Koeleman BP
    Neurosci Lett; 2009 Oct; 462(1):24-9. PubMed ID: 19559753
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
    Knight MA; Storey E; McKinlay Gardner RJ; Hand P; Forrest SM
    Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013453
    [No Abstract]   [Full Text] [Related]  

  • 77. Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
    Mochizuki Y; Kawata A; Mizutani T; Takamoto K; Hayashi H; Taki K; Morimatsu Y
    Acta Neuropathol; 2004 Oct; 108(4):345-9. PubMed ID: 15300451
    [TBL] [Abstract][Full Text] [Related]  

  • 78. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
    Petitprez S; Tiab L; Chen L; Kappeler L; Rösler KM; Schorderet D; Abriel H; Burgunder JM
    Neurology; 2008 Nov; 71(21):1669-75. PubMed ID: 19015483
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
    Bertholon P; Chabrier S; Riant F; Tournier-Lasserve E; Peyron R
    J Neurol Neurosurg Psychiatry; 2009 Nov; 80(11):1289-92. PubMed ID: 19864665
    [TBL] [Abstract][Full Text] [Related]  

  • 80. 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]  

    [Previous]   [Next]    [New Search]
    of 11.