BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 34231463)

  • 1. Alternating Hemiplegia of Childhood Caused by
    Yang GG; Zhao ZL; Yang Y; Lin L; Song CL; Wang XC; Yang B
    Chin Med Sci J; 2021 Jun; 36(2):150-157. PubMed ID: 34231463
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
    Helseth AR; Hunanyan AS; Adil S; Linabarger M; Sachdev M; Abdelnour E; Arehart E; Szabo M; Richardson J; Wetsel WC; Hochgeschwender U; Mikati MA
    Neurobiol Dis; 2018 Nov; 119():100-112. PubMed ID: 30071271
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. [Genotype-phenotype correlation in patients with alternating hemiplegia of childhood].
    Li SP; Zhang YH; Yang XL; Chen JY; Zeng Q; Zhang J; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):811-817. PubMed ID: 30392204
    [No Abstract]   [Full Text] [Related]  

  • 6. [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]  

  • 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. Alternating hemiplegia of childhood.
    Ananthavarathan P; Kamourieh S
    Handb Clin Neurol; 2023; 198():221-227. PubMed ID: 38043964
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
    Marzin P; Mignot C; Dorison N; Dufour L; Ville D; Kaminska A; Panagiotakaki E; Dienpendaele AS; Penniello MJ; Nougues MC; Keren B; Depienne C; Nava C; Milh M; Villard L; Richelme C; Rivier C; Whalen S; Heron D; Lesca G; Doummar D
    Brain Dev; 2018 Oct; 40(9):768-774. PubMed ID: 29861155
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
    Novy J; McWilliams E; Sisodiya SM
    Eur J Med Genet; 2014 Jan; 57(1):37-9. PubMed ID: 24291144
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
    Jaffer F; Avbersek A; Vavassori R; Fons C; Campistol J; Stagnaro M; De Grandis E; Veneselli E; Rosewich H; Gianotta M; Zucca C; Ragona F; Granata T; Nardocci N; Mikati M; Helseth AR; Boelman C; Minassian BA; Johns S; Garry SI; Scheffer IE; Gourfinkel-An I; Carrilho I; Aylett SE; Parton M; Hanna MG; Houlden H; Neville B; Kurian MA; Novy J; Sander JW; Lambiase PD; Behr ER; Schyns T; Arzimanoglou A; Cross JH; Kaski JP; Sisodiya SM
    Brain; 2015 Oct; 138(Pt 10):2859-74. PubMed ID: 26297560
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
    Viollet L; Glusman G; Murphy KJ; Newcomb TM; Reyna SP; Sweney M; Nelson B; Andermann F; Andermann E; Acsadi G; Barbano RL; Brown C; Brunkow ME; Chugani HT; Cheyette SR; Collins A; DeBrosse SD; Galas D; Friedman J; Hood L; Huff C; Jorde LB; King MD; LaSalle B; Leventer RJ; Lewelt AJ; Massart MB; Mérida MR; Ptáček LJ; Roach JC; Rust RS; Renault F; Sanger TD; Sotero de Menezes MA; Tennyson R; Uldall P; Zhang Y; Zupanc M; Xin W; Silver K; Swoboda KJ
    PLoS One; 2015; 10(5):e0127045. PubMed ID: 25996915
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
    Galaz-Montoya CI; Alcaraz-Estrada S; García-Montaño LA; Zenteno JC; Piña-Aguilar RE
    Bol Med Hosp Infant Mex; 2019; 76(1):49-53. PubMed ID: 30657467
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
    Vila-Pueyo M; Pons R; Raspall-Chaure M; Marcé-Grau A; Carreño O; Sintas C; Cormand B; Pineda-Marfà M; Macaya A
    J Neurol Sci; 2014 Sep; 344(1-2):37-42. PubMed ID: 24996492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.