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 *

159 related articles for article (PubMed ID: 19182766)

  • 1. Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
    Self J; Mercer C; Boon EM; Murugavel M; Shawkat F; Hammans S; Hodgkins P; Griffiths H; Lotery A
    Eye (Lond); 2009 Dec; 23(12):2251-5. PubMed ID: 19182766
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 254(1-2):69-71. PubMed ID: 17292920
    [TBL] [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; 241(1-2):13-7. PubMed ID: 16325861
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 371():81-84. PubMed ID: 27871455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    García Segarra N; Gautschi I; Mittaz-Crettol L; Kallay Zetchi C; Al-Qusairi L; Van Bemmelen MX; Maeder P; Bonafé L; Schild L; Roulet-Perez E
    J Neurol Sci; 2014 Jul; 342(1-2):69-78. PubMed ID: 24836863
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
    Jodice C; Mantuano E; Veneziano L; Trettel F; Sabbadini G; Calandriello L; Francia A; Spadaro M; Pierelli F; Salvi F; Ophoff RA; Frants RR; Frontali M
    Hum Mol Genet; 1997 Oct; 6(11):1973-8. PubMed ID: 9302278
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
    Bürk K; Kaiser FJ; Tennstedt S; Schöls L; Kreuz FR; Wieland T; Strom TM; Büttner T; Hollstein R; Braunholz D; Plaschke J; Gillessen-Kaesbach G; Zühlke C
    Eur J Med Genet; 2014 Apr; 57(5):207-11. PubMed ID: 24486772
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
    Indelicato E; Nachbauer W; Karner E; Eigentler A; Wagner M; Unterberger I; Poewe W; Delazer M; Boesch S
    Eur J Neurol; 2019 Jan; 26(1):66-e7. PubMed ID: 30063100
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
    Travaglini L; Nardella M; Bellacchio E; D'Amico A; Capuano A; Frusciante R; Di Capua M; Cusmai R; Barresi S; Morlino S; Fernández-Fernández JM; Trivisano M; Specchio N; Valeriani M; Vigevano F; Bertini E; Zanni G
    Eur J Paediatr Neurol; 2017 May; 21(3):450-456. PubMed ID: 28007337
    [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. 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]  

  • 15. Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
    Rajakulendran S; Graves TD; Labrum RW; Kotzadimitriou D; Eunson L; Davis MB; Davies R; Wood NW; Kullmann DM; Hanna MG; Schorge S
    J Physiol; 2010 Jun; 588(Pt 11):1905-13. PubMed ID: 20156848
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
    Stendel C; D'Adamo MC; Wiessner M; Dusl M; Cenciarini M; Belia S; Nematian-Ardestani E; Bauer P; Senderek J; Klopstock T; Pessia M
    Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32471306
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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; 291(1-2):30-6. PubMed ID: 20129625
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.