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 *

138 related articles for article (PubMed ID: 28431595)

  • 1. 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]  

  • 2. A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.
    Balck A; Tunc S; Schmitz J; Hollstein R; Kaiser FJ; Brüggemann N
    Cerebellum; 2018 Aug; 17(4):504-506. PubMed ID: 29497979
    [No Abstract]   [Full Text] [Related]  

  • 3. Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation.
    Shimmura M; Uehara T; Yamashita K; Shigeto H; Yamasaki R; Ishikawa K; Kira JI
    J Neurol Sci; 2017 Oct; 381():4-6. PubMed ID: 28991713
    [No Abstract]   [Full Text] [Related]  

  • 4. A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis.
    Park D; Kim SH; Lee YJ; Song GJ; Park JS
    Acta Neurol Belg; 2018 Mar; 118(1):137-139. PubMed ID: 29442233
    [No Abstract]   [Full Text] [Related]  

  • 5. Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant.
    Nardello R; Plicato G; Mangano GD; Gennaro E; Mangano S; Brighina F; Raieli V; Fontana A
    BMC Neurol; 2020 Apr; 20(1):155. PubMed ID: 32336275
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification.
    Cleves C; Parikh S; Rothner AD; Tepper SJ
    Cephalalgia; 2010 Jun; 30(6):740-3. PubMed ID: 19624685
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy.
    Penkava J; Ledderose S; Chahrokh-Zadeh S; Munzig A; Eulenburg Z; Huppert D; Strupp M; Becker-Bense S
    J Neurol; 2020 Dec; 267(Suppl 1):181-184. PubMed ID: 32910250
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].
    Jiang HS; Wang DM; Wang Q; Yang M; Wang W; Pan SY; Hu YF
    Nan Fang Yi Ke Da Xue Xue Bao; 2016 Jun; 36(7):883-6. PubMed ID: 27435762
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases.
    Ling X; Zhao DH; Zhao J; Shen B; Yang X
    Int J Neurosci; 2019 Feb; 129(2):103-109. PubMed ID: 29883219
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.
    Yabe I; Kitagawa M; Suzuki Y; Fujiwara K; Wada T; Tsubuku T; Takeichi N; Sakushima K; Soma H; Tsuji S; Niino M; Saitoh S; Sasaki H
    J Neurol; 2008 Oct; 255(10):1541-4. PubMed ID: 18670797
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel de novo pathogenic mutation in the CACNA1A gene.
    Fujioka S; Rayaprolu S; Sundal C; Broderick DF; Langley WA; Shoffner J; Hyams LC; Rademakers R; Graff-Radford NR; Tatum W; Ross OA; Wszolek ZK
    Mov Disord; 2012 Oct; 27(12):1578-9. PubMed ID: 23038654
    [No Abstract]   [Full Text] [Related]  

  • 16. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
    Damaj L; Lupien-Meilleur A; Lortie A; Riou É; Ospina LH; Gagnon L; Vanasse C; Rossignol E
    Eur J Hum Genet; 2015 Nov; 23(11):1505-12. PubMed ID: 25735478
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

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

  • 19. [Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members].
    Kaido M; Furuta M; Nakamori M; Yuasa Y; Takahashi MP
    Rinsho Shinkeigaku; 2016 Apr; 56(4):260-4. PubMed ID: 27025991
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation.
    Argenziano G; Cavallieri F; Monfrini E; Gessani A; Russo M; Rizzi R; Fioravanti V; Grisanti S; Toschi G; Napoli M; Pascarella R; Budriesi C; Di Fonzo A; Zucco R; Valzania F
    Parkinsonism Relat Disord; 2023 Mar; 108():105311. PubMed ID: 36805178
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.