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 *

172 related articles for article (PubMed ID: 9600739)

  • 41. Whole-Exome Sequencing Implicates
    Maksemous N; Smith RA; Sutherland HG; Sampaio H; Griffiths LR
    Int J Mol Sci; 2018 Oct; 19(10):. PubMed ID: 30314295
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?
    Julien J; Denier C; Ferrer X; Ducros A; Saintarailles J; Lagueny A; Tournier-Lasserve E; Vital C
    J Neurol; 2001 Mar; 248(3):209-14. PubMed ID: 11355155
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Acetazolamide-responsive episodic ataxia syndrome.
    Zasorin NL; Baloh RW; Myers LB
    Neurology; 1983 Sep; 33(9):1212-4. PubMed ID: 6684259
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 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; 276(1-2):31-7. PubMed ID: 18976783
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Episodic ataxia type 2: an uncommon inherited CNS channelopathies.
    Pulkes T
    J Med Assoc Thai; 2003 Apr; 86(4):376-80. PubMed ID: 12757085
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
    Schwarz N; Bast T; Gaily E; Golla G; Gorman KM; Griffiths LR; Hahn A; Hukin J; King M; Korff C; Miranda MJ; Møller RS; Neubauer B; Smith RA; Smol T; Striano P; Stroud B; Vaccarezza M; Kluger G; Lerche H; Fazeli W
    Eur J Paediatr Neurol; 2019 May; 23(3):438-447. PubMed ID: 30928199
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
    Hu Y; Jiang H; Wang Q; Xie Z; Pan S
    PLoS One; 2013; 8(2):e56362. PubMed ID: 23441182
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.
    Naik S; Pohl K; Malik M; Siddiqui A; Josifova D
    Pediatr Neurol; 2011 Nov; 45(5):328-30. PubMed ID: 22000314
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Episodic ataxias 1 and 2.
    Baloh RW
    Handb Clin Neurol; 2012; 103():595-602. PubMed ID: 21827920
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.
    Petrovicova A; Brozman M; Kurca E; Gobo T; Dluha J; Kalmarova K; Nosal V; Hikkelova M; Krajciova A; Burjanivova T; Sivak S
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2017 Mar; 161(1):107-110. PubMed ID: 28096552
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.
    Schesny M; Joncourt F; Tarnutzer AA
    Cerebellum; 2019 Jun; 18(3):649-653. PubMed ID: 30607796
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. Case report of novel
    Isaacs DA; Bradshaw MJ; Brown K; Hedera P
    SAGE Open Med Case Rep; 2017; 5():2050313X17706044. PubMed ID: 28540055
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.
    Hirasawa-Inoue A; Ishiyama A; Takeshita E; Shimizu-Motohashi Y; Saito T; Komaki H; Nakagawa E; Yuasa S; Saitsu H; Hamanaka K; Miyatake S; Matsumoto N; Sasaki M
    Brain Dev; 2019 Nov; 41(10):905-909. PubMed ID: 31288946
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. 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]  

  • 60. Eye movement disorders are an early manifestation of CACNA1A mutations in children.
    Tantsis EM; Gill D; Griffiths L; Gupta S; Lawson J; Maksemous N; Ouvrier R; Riant F; Smith R; Troedson C; Webster R; Menezes MP
    Dev Med Child Neurol; 2016 Jun; 58(6):639-44. PubMed ID: 26814174
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.