BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 38043964)

  • 21. Alternating Hemiplegia of Childhood in Korea: a Case Report.
    Shin C; Yoo D; Kim HJ; Jeon B
    J Korean Med Sci; 2020 Jul; 35(26):e203. PubMed ID: 32627437
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
    Ito T; Narugami M; Egawa K; Yamamoto H; Asahina N; Kohsaka S; Ishii A; Hirose S; Shiraishi H
    Brain Dev; 2018 Mar; 40(3):226-228. PubMed ID: 29269014
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
    Ulate-Campos A; Fons C; Artuch R; Castejón E; Martorell L; Ozelius L; Pascual J; Campistol J
    Pediatr Neurol; 2014 Apr; 50(4):377-9. PubMed ID: 24491413
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel ATP1A3 mutation with unique clinical presentation.
    Rosewich H; Baethmann M; Ohlenbusch A; Gärtner J; Brockmann K
    J Neurol Sci; 2014 Jun; 341(1-2):133-5. PubMed ID: 24713507
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.
    Neupert D; Abbassi P; Prange L; Flamini R; Mikati MA
    Epileptic Disord; 2022 Feb; 24(1):183-190. PubMed ID: 34789444
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
    Boelman C; Lagman-Bartolome AM; MacGregor DL; McCabe J; Logan WJ; Minassian BA
    Pediatr Neurol; 2014 Dec; 51(6):850-3. PubMed ID: 25439493
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [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]  

  • 30. 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]  

  • 31. Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.
    Pisciotta L; Gherzi M; Stagnaro M; Calevo MG; Giannotta M; Vavassori MR; Veneselli E; ; De Grandis E
    Brain Dev; 2017 Jun; 39(6):521-528. PubMed ID: 28249736
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.
    Ju J; Hirose S; Shi XY; Ishii A; Hu LY; Zou LP
    Orphanet J Rare Dis; 2016 May; 11(1):55. PubMed ID: 27146299
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.
    Hunanyan AS; Fainberg NA; Linabarger M; Arehart E; Leonard AS; Adil SM; Helseth AR; Swearingen AK; Forbes SL; Rodriguiz RM; Rhodes T; Yao X; Kibbi N; Hochman DW; Wetsel WC; Hochgeschwender U; Mikati MA
    Epilepsia; 2015 Jan; 56(1):82-93. PubMed ID: 25523819
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
    Holze N; Baalen AV; Stephani U; Helbig I; Muhle H
    Neuropediatrics; 2018 Oct; 49(5):342-346. PubMed ID: 29801192
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. [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]  

  • 39. [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]  

  • 40. Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
    Pavone P; Pappalardo XG; Mustafa N; Cho SY; Jin DK; Incorpora G; Falsaperla R; Marino SD; Corsello G; Parano E; Ruggieri M
    Ital J Pediatr; 2022 Feb; 48(1):29. PubMed ID: 35177115
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.