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 *

199 related articles for article (PubMed ID: 32458086)

  • 1. Rare CACNA1A mutations leading to congenital ataxia.
    Izquierdo-Serra M; Fernández-Fernández JM; Serrano M
    Pflugers Arch; 2020 Jul; 472(7):791-809. PubMed ID: 32458086
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
    Bahamonde MI; Serra SA; Drechsel O; Rahman R; Marcé-Grau A; Prieto M; Ossowski S; Macaya A; Fernández-Fernández JM
    PLoS One; 2015; 10(12):e0146035. PubMed ID: 26716990
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    Martínez-Monseny AF; Edo A; Casas-Alba D; Izquierdo-Serra M; Bolasell M; Conejo D; Martorell L; Muchart J; Carrera L; Ortez CI; Nascimento A; Oliva B; Fernández-Fernández JM; Serrano M
    Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34068417
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. 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]  

  • 7. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. CaV2.1 channelopathies.
    Pietrobon D
    Pflugers Arch; 2010 Jul; 460(2):375-93. PubMed ID: 20204399
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
    Ducros A; Denier C; Joutel A; Vahedi K; Michel A; Darcel F; Madigand M; Guerouaou D; Tison F; Julien J; Hirsch E; Chedru F; Bisgård C; Lucotte G; Després P; Billard C; Barthez MA; Ponsot G; Bousser MG; Tournier-Lasserve E
    Am J Hum Genet; 1999 Jan; 64(1):89-98. PubMed ID: 9915947
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.
    Kaja S; Payne AJ; Nielsen EØ; Thompson CL; van den Maagdenberg AM; Koulen P; Snutch TP
    Neuroscience; 2015 Sep; 304():198-208. PubMed ID: 26208839
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
    Battistini S; Stenirri S; Piatti M; Gelfi C; Righetti PG; Rocchi R; Giannini F; Battistini N; Guazzi GC; Ferrari M; Carrera P
    Neurology; 1999 Jul; 53(1):38-43. PubMed ID: 10408534
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
    Imbrici P; Jaffe SL; Eunson LH; Davies NP; Herd C; Robertson R; Kullmann DM; Hanna MG
    Brain; 2004 Dec; 127(Pt 12):2682-92. PubMed ID: 15483044
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
    Indelicato E; Boesch S
    Handb Exp Pharmacol; 2023; 279():227-248. PubMed ID: 36592223
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
    Izquierdo-Serra M; Martínez-Monseny AF; López L; Carrillo-García J; Edo A; Ortigoza-Escobar JD; García Ó; Cancho-Candela R; Carrasco-Marina ML; Gutiérrez-Solana LG; Cuadras D; Muchart J; Montero R; Artuch R; Pérez-Cerdá C; Pérez B; Pérez-Dueñas B; Macaya A; Fernández-Fernández JM; Serrano M
    Int J Mol Sci; 2018 Feb; 19(2):. PubMed ID: 29470411
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Zebrafish as a Model System for the Study of Severe Ca
    Tyagi S; Ribera AB; Bannister RA
    Front Mol Neurosci; 2019; 12():329. PubMed ID: 32116539
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.
    Gandini MA; Souza IA; Ferron L; Innes AM; Zamponi GW
    Mol Brain; 2021 Feb; 14(1):27. PubMed ID: 33557884
    [TBL] [Abstract][Full Text] [Related]  

  • 19. R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.
    Di Cristofori A; Fusi L; Gomitoni A; Grampa G; Bersano A;
    J Headache Pain; 2012 Jul; 13(5):419-23. PubMed ID: 22527033
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the Voltage Dependent Calcium Channel
    Manickam AH; Ramasamy S
    Neurol India; 2021; 69(4):808-816. PubMed ID: 34507393
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.