BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 29895895)

  • 1. Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
    Chaumette B; Ferrafiat V; Ambalavanan A; Goldenberg A; Dionne-Laporte A; Spiegelman D; Dion PA; Gerardin P; Laurent C; Cohen D; Rapoport J; Rouleau GA
    Mol Psychiatry; 2020 Apr; 25(4):821-830. PubMed ID: 29895895
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
    Rosewich H; Thiele H; Ohlenbusch A; Maschke U; Altmüller J; Frommolt P; Zirn B; Ebinger F; Siemes H; Nürnberg P; Brockmann K; Gärtner J
    Lancet Neurol; 2012 Sep; 11(9):764-73. PubMed ID: 22850527
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
    Yang X; Zhang Y; Yuan D; Xu X; Li S; Wei L; Wu Y; Xiong H; Liu X; Bao X; Jiang Y; Wu X
    Zhonghua Er Ke Za Zhi; 2015 Nov; 53(11):835-9. PubMed ID: 26758322
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
    Panagiotakaki E; Tiziano FD; Mikati MA; Vijfhuizen LS; Nicole S; Lesca G; Abiusi E; Novelli A; Di Pietro L; ; ; Harder AVE; Walley NM; De Grandis E; Poulat AL; Portes VD; Lépine A; Nassogne MC; Arzimanoglou A; Vavassori R; Koenderink J; Thompson CH; George AL; Gurrieri F; van den Maagdenberg AMJM; Heinzen EL
    Eur J Hum Genet; 2024 Feb; 32(2):224-231. PubMed ID: 38097767
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
    Heinzen EL; Swoboda KJ; Hitomi Y; Gurrieri F; Nicole S; de Vries B; Tiziano FD; Fontaine B; Walley NM; Heavin S; Panagiotakaki E; ; ; ; Fiori S; Abiusi E; Di Pietro L; Sweney MT; Newcomb TM; Viollet L; Huff C; Jorde LB; Reyna SP; Murphy KJ; Shianna KV; Gumbs CE; Little L; Silver K; Ptáček LJ; Haan J; Ferrari MD; Bye AM; Herkes GK; Whitelaw CM; Webb D; Lynch BJ; Uldall P; King MD; Scheffer IE; Neri G; Arzimanoglou A; van den Maagdenberg AM; Sisodiya SM; Mikati MA; Goldstein DB
    Nat Genet; 2012 Sep; 44(9):1030-4. PubMed ID: 22842232
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
    Yang X; Yang X; Chen J; Li S; Zeng Q; Huang AY; Ye AY; Yu Z; Wang S; Jiang Y; Wu X; Wu Q; Wei L; Zhang Y
    Clin Genet; 2019 Jul; 96(1):43-52. PubMed ID: 30891744
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
    Ishii A; Saito Y; Mitsui J; Ishiura H; Yoshimura J; Arai H; Yamashita S; Kimura S; Oguni H; Morishita S; Tsuji S; Sasaki M; Hirose S
    PLoS One; 2013; 8(2):e56120. PubMed ID: 23409136
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
    Kanemasa H; Fukai R; Sakai Y; Torio M; Miyake N; Lee S; Ono H; Akamine S; Nishiyama K; Sanefuji M; Ishizaki Y; Torisu H; Saitsu H; Matsumoto N; Hara T
    BMC Neurol; 2016 Sep; 16():174. PubMed ID: 27634470
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
    Yang X; Gao H; Zhang J; Xu X; Liu X; Wu X; Wei L; Zhang Y
    PLoS One; 2014; 9(5):e97274. PubMed ID: 24842602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
    Ulate-Campos A; Fons C; Campistol J; Martorell L; Cancho-Candela R; Eiris J; López-Laso E; Pineda M; Sans A; Velázquez R
    Med Clin (Barc); 2014 Jul; 143(1):25-8. PubMed ID: 24768197
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.
    Snow JP; Westlake G; Klofas LK; Jeon S; Armstrong LC; Swoboda KJ; George AL; Ess KC
    Neurobiol Dis; 2020 Jul; 141():104881. PubMed ID: 32348881
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit.
    Bibert S; Liu CC; Figtree GA; Garcia A; Hamilton EJ; Marassi FM; Sweadner KJ; Cornelius F; Geering K; Rasmussen HH
    J Biol Chem; 2011 May; 286(21):18562-72. PubMed ID: 21454534
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
    Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R;
    Brain; 2021 Jun; 144(5):1435-1450. PubMed ID: 33880529
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
    Hoei-Hansen CE; Dali CÍ; Lyngbye TJ; Duno M; Uldall P
    Eur J Paediatr Neurol; 2014 Jan; 18(1):50-4. PubMed ID: 24100174
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.
    Calame DG; Houck K; Lotze T; Emrick L; Parnes M
    Eur J Paediatr Neurol; 2021 Mar; 31():21-26. PubMed ID: 33578253
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.
    Di Michele M; Goubau C; Waelkens E; Thys C; De Vos R; Overbergh L; Schyns T; Buyse G; Casaer P; Van Geet C; Freson K
    J Proteomics; 2013 Jun; 86():53-69. PubMed ID: 23681173
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo variants in sporadic cases of childhood onset schizophrenia.
    Ambalavanan A; Girard SL; Ahn K; Zhou S; Dionne-Laporte A; Spiegelman D; Bourassa CV; Gauthier J; Hamdan FF; Xiong L; Dion PA; Joober R; Rapoport J; Rouleau GA
    Eur J Hum Genet; 2016 Jun; 24(6):944-8. PubMed ID: 26508570
    [TBL] [Abstract][Full Text] [Related]  

  • 18. FXYD proteins stabilize Na,K-ATPase: amplification of specific phosphatidylserine-protein interactions.
    Mishra NK; Peleg Y; Cirri E; Belogus T; Lifshitz Y; Voelker DR; Apell HJ; Garty H; Karlish SJ
    J Biol Chem; 2011 Mar; 286(11):9699-712. PubMed ID: 21228272
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment?
    Wong VC; Kwong AK
    Brain Dev; 2015 Oct; 37(9):907-10. PubMed ID: 25662428
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    Moya-Mendez ME; Ogbonna C; Ezekian JE; Rosamilia MB; Prange L; de la Uz C; Kim JJ; Howard T; Garcia J; Nussbaum R; Truty R; Callis TE; Funk E; Heyes M; Dear GL; Carboni MP; Idriss SF; Mikati MA; Landstrom AP
    J Am Heart Assoc; 2021 Sep; 10(17):e019887. PubMed ID: 34459253
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.