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Journal Abstract Search

259 related items for PubMed ID: 17404565

  • 1. [Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach].
    Bozzola E, Savasta S, Peruzzi C, Bozzola M, Bona G.
    Minerva Pediatr; 2007 Apr; 59(2):149-56. PubMed ID: 17404565
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  • 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 15; 241(1-2):13-7. PubMed ID: 16325861
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 6. [Episodic ataxias].
    Herrmann A, Braathen GJ, Russell MB.
    Tidsskr Nor Laegeforen; 2005 Aug 11; 125(15):2005-7. PubMed ID: 16100538
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  • 7. Episodic ataxias 1 and 2.
    Baloh RW.
    Handb Clin Neurol; 2012 Aug 11; 103():595-602. PubMed ID: 21827920
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  • 9. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
    Lindquist SG, Nørremølle A, Hjermind LE, Hasholt L, Nielsen JE.
    J Neurol Sci; 2006 Feb 15; 241(1-2):95-8. PubMed ID: 16310805
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  • 11. 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 15; 16(6):809-13. PubMed ID: 11748369
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  • 12. 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
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  • 13. 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
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  • 14. 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 15; 57(3):349-54. PubMed ID: 15732118
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 371():81-84. PubMed ID: 27871455
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  • 16. Spinocerebellar ataxia type 6.
    Solodkin A, Gomez CM.
    Handb Clin Neurol; 2012 Dec 15; 103():461-73. PubMed ID: 21827907
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  • 19. Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.
    Terwindt GM, Ophoff RA, Haan J, Sandkuijl LA, Frants RR, Ferrari MD.
    Eur J Hum Genet; 1998 Dec 15; 6(4):297-307. PubMed ID: 9781035
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  • 20. 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
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