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Journal Abstract Search

307 related items for PubMed ID: 20129625

  • 1. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
    Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.
    J Neurol Sci; 2010 Apr 15; 291(1-2):30-6. PubMed ID: 20129625
    [Abstract] [Full Text] [Related]

  • 2. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
    Spacey SD, Materek LA, Szczygielski BI, Bird TD.
    Arch Neurol; 2005 Feb 15; 62(2):314-6. PubMed ID: 15710862
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 241(1-2):13-7. PubMed ID: 16325861
    [Abstract] [Full Text] [Related]

  • 4. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
    Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM.
    Ann Neurol; 2003 Dec 15; 54(6):725-31. PubMed ID: 14681882
    [Abstract] [Full Text] [Related]

  • 5. Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
    van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD.
    J Neurol; 2002 Nov 15; 249(11):1515-9. PubMed ID: 12420090
    [Abstract] [Full Text] [Related]

  • 6. Large CACNA1A deletion in a family with episodic ataxia type 2.
    Riant F, Mourtada R, Saugier-Veber P, Tournier-Lasserve E.
    Arch Neurol; 2008 Jun 15; 65(6):817-20. PubMed ID: 18541804
    [Abstract] [Full Text] [Related]

  • 7. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
    Zafeiriou DI, Lehmann-Horn F, Vargiami E, Teflioudi E, Ververi A, Jurkat-Rott K.
    Eur J Paediatr Neurol; 2009 Mar 15; 13(2):191-3. PubMed ID: 18602318
    [Abstract] [Full Text] [Related]

  • 8. A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene.
    Hirose H, Arayama T, Takita J, Igarashi T, Hayashi Y, Nagao Y.
    Int J Mol Med; 2003 Feb 15; 11(2):187-9. PubMed ID: 12525875
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 254(1-2):69-71. PubMed ID: 17292920
    [Abstract] [Full Text] [Related]

  • 10. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
    Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP.
    Ann Neurol; 2004 Aug 15; 56(2):213-20. PubMed ID: 15293273
    [Abstract] [Full Text] [Related]

  • 11. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
    Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW.
    Neurology; 2005 Jun 28; 64(12):2090-7. PubMed ID: 15985579
    [Abstract] [Full Text] [Related]

  • 12. CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
    Robbins MS, Lipton RB, Laureta EC, Grosberg BM.
    Headache; 2009 Jul 28; 49(7):1042-6. PubMed ID: 19486177
    [Abstract] [Full Text] [Related]

  • 13. [Hereditary episodic ataxia].
    Riant F, Vahedi K, Tournier-Lasserve E.
    Rev Neurol (Paris); 2011 May 28; 167(5):401-7. PubMed ID: 21492892
    [Abstract] [Full Text] [Related]

  • 14. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
    Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B.
    J Neurol Sci; 2009 May 15; 280(1-2):10-4. PubMed ID: 19232643
    [Abstract] [Full Text] [Related]

  • 15. Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.
    Marti S, Baloh RW, Jen JC, Straumann D, Jung HH.
    Eur Neurol; 2008 May 15; 60(1):16-20. PubMed ID: 18437043
    [Abstract] [Full Text] [Related]

  • 16. Stepwise developmental regression associated with novel CACNA1A mutation.
    Guerin AA, Feigenbaum A, Donner EJ, Yoon G.
    Pediatr Neurol; 2008 Nov 15; 39(5):363-4. PubMed ID: 18940563
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 60(4):610-4. PubMed ID: 12707077
    [Abstract] [Full Text] [Related]

  • 18. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
    von Brevern M, Ta N, Shankar A, Wiste A, Siegel A, Radtke A, Sander T, Escayg A.
    Headache; 2006 Apr 15; 46(7):1136-41. PubMed ID: 16866717
    [Abstract] [Full Text] [Related]

  • 19. [Episodic ataxias].
    Herrmann A, Braathen GJ, Russell MB.
    Tidsskr Nor Laegeforen; 2005 Aug 11; 125(15):2005-7. PubMed ID: 16100538
    [Abstract] [Full Text] [Related]

  • 20. Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
    Veneziano L, Guida S, Mantuano E, Bernard P, Tarantino P, Boccone L, Hisama FM, Carrera P, Jodice C, Frontali M.
    J Neurol Sci; 2009 Jan 15; 276(1-2):31-7. PubMed ID: 18976783
    [Abstract] [Full Text] [Related]

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