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 *

262 related articles for article (PubMed ID: 26716990)

  • 1. 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]  

  • 2. 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]  

  • 3. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.
    Wappl E; Koschak A; Poteser M; Sinnegger MJ; Walter D; Eberhart A; Groschner K; Glossmann H; Kraus RL; Grabner M; Striessnig J
    J Biol Chem; 2002 Mar; 277(9):6960-6. PubMed ID: 11742003
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca
    Fu SJ; Jeng CJ; Ma CH; Peng YJ; Lee CM; Fang YC; Lee YC; Tang SC; Hu MC; Tang CY
    J Neurosci; 2017 Mar; 37(9):2485-2503. PubMed ID: 28167673
    [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. 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]  

  • 8. Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
    Müllner C; Broos LA; van den Maagdenberg AM; Striessnig J
    J Biol Chem; 2004 Dec; 279(50):51844-50. PubMed ID: 15448138
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels.
    Garza-López E; González-Ramírez R; Gandini MA; Sandoval A; Felix R
    Cephalalgia; 2013 Apr; 33(6):398-407. PubMed ID: 23430985
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    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]  

  • 11. A mutation in Ca
    Tyagi S; Bendrick TR; Filipova D; Papadopoulos S; Bannister RA
    J Gen Physiol; 2019 Jun; 151(6):850-859. PubMed ID: 31015257
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complex effects on Ca
    Grosso BJ; Kramer AA; Tyagi S; Bennett DF; Tifft CJ; D'Souza P; Wangler MF; Macnamara EF; Meza U; Bannister RA
    Sci Rep; 2022 Jun; 12(1):9186. PubMed ID: 35655070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.
    Tottene A; Fellin T; Pagnutti S; Luvisetto S; Striessnig J; Fletcher C; Pietrobon D
    Proc Natl Acad Sci U S A; 2002 Oct; 99(20):13284-9. PubMed ID: 12235360
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
    Condliffe SB; Fratangeli A; Munasinghe NR; Saba E; Passafaro M; Montrasio C; Ferrari M; Rosa P; Carrera P
    J Biol Chem; 2013 Nov; 288(47):33873-33883. PubMed ID: 24108129
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2.
    Dorgans K; Salvi J; Bertaso F; Bernard L; Lory P; Doussau F; Mezghrani A
    Neurobiol Dis; 2017 Oct; 106():110-123. PubMed ID: 28688851
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. 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]  

  • 20. Modulation of CaV2.1 channels by the neuronal calcium-binding protein visinin-like protein-2.
    Lautermilch NJ; Few AP; Scheuer T; Catterall WA
    J Neurosci; 2005 Jul; 25(30):7062-70. PubMed ID: 16049183
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.