BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 37031571)

  • 1. Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.
    Chen Y; Rong S; Luo H; Huang B; Hu F; Chen M; Li C
    Pediatr Neurol; 2023 Jun; 143():79-83. PubMed ID: 37031571
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.
    Tawfik CA; Zaitoun R; Farag AA
    Ophthalmic Genet; 2023 Jun; 44(3):226-233. PubMed ID: 36856321
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    Zheng Y; Yu X; Zhang T; Hu L; Zhou D; Huang X
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Dec; 52(6):738-743. PubMed ID: 38105692
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Harel-Yoon syndrome caused by a novel variant in ATAD3A: A case report.
    Zhang S; Lin L; Li Y; Peng C; Lin Y; Liu Y; Liang L; Huang J; Xie Q; Yang M; Zhu H
    Heliyon; 2024 Jan; 10(1):e23669. PubMed ID: 38173481
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Harel-Yoon syndrome caused by the c.368G>A variant in the ATAD3A gene: A case report.
    Qi R; Li R; Yang W; Sang Y
    Asian J Surg; 2022 Mar; 45(3):914-916. PubMed ID: 35012852
    [No Abstract]   [Full Text] [Related]  

  • 6. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
    Peralta S; González-Quintana A; Ybarra M; Delmiro A; Pérez-Pérez R; Docampo J; Arenas J; Blázquez A; Ugalde C; Martín MA
    Mol Genet Metab; 2019 Dec; 128(4):452-462. PubMed ID: 31727539
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
    Gunning AC; Strucinska K; Muñoz Oreja M; Parrish A; Caswell R; Stals KL; Durigon R; Durlacher-Betzer K; Cunningham MH; Grochowski CM; Baptista J; Tysoe C; Baple E; Lahiri N; Homfray T; Scurr I; Armstrong C; Dean J; Fernandez Pelayo U; Jones AWE; Taylor RW; Misra VK; Yoon WH; Wright CF; Lupski JR; Spinazzola A; Harel T; Holt IJ; Ellard S
    Am J Hum Genet; 2020 Feb; 106(2):272-279. PubMed ID: 32004445
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
    Harel T; Yoon WH; Garone C; Gu S; Coban-Akdemir Z; Eldomery MK; Posey JE; Jhangiani SN; Rosenfeld JA; Cho MT; Fox S; Withers M; Brooks SM; Chiang T; Duraine L; Erdin S; Yuan B; Shao Y; Moussallem E; Lamperti C; Donati MA; Smith JD; McLaughlin HM; Eng CM; Walkiewicz M; Xia F; Pippucci T; Magini P; Seri M; Zeviani M; Hirano M; Hunter JV; Srour M; Zanigni S; Lewis RA; Muzny DM; Lotze TE; Boerwinkle E; ; ; Gibbs RA; Hickey SE; Graham BH; Yang Y; Buhas D; Martin DM; Potocki L; Graziano C; Bellen HJ; Lupski JR
    Am J Hum Genet; 2016 Oct; 99(4):831-845. PubMed ID: 27640307
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
    Yap ZY; Park YH; Wortmann SB; Gunning AC; Ezer S; Lee S; Duraine L; Wilichowski E; Wilson K; Mayr JA; Wagner M; Li H; Kini U; Black ED; Monaghan KG; Lupski JR; Ellard S; Westphal DS; Harel T; Yoon WH
    Genome Med; 2021 Apr; 13(1):55. PubMed ID: 33845882
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.
    Abdul-Raheem J; Nikkola E; Chen Z; Rohena L
    Am J Med Genet A; 2024 Jun; ():e63647. PubMed ID: 38877820
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the
    Al Madhoun A; Alnaser F; Melhem M; Nizam R; Al-Dabbous T; Al-Mulla F
    Appl Clin Genet; 2019; 12():79-86. PubMed ID: 31239750
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.
    Lin CH; Lin WD; Chou IC; Lee IC; Fan HC; Hong SY
    BMC Neurol; 2018 Sep; 18(1):150. PubMed ID: 30236064
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
    Cooper HM; Yang Y; Ylikallio E; Khairullin R; Woldegebriel R; Lin KL; Euro L; Palin E; Wolf A; Trokovic R; Isohanni P; Kaakkola S; Auranen M; Lönnqvist T; Wanrooij S; Tyynismaa H
    Hum Mol Genet; 2017 Apr; 26(8):1432-1443. PubMed ID: 28158749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].
    Xu YF; Li N; Li GQ; Wang XM; Zhou YF; Yin L; Wang J
    Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):215-219. PubMed ID: 28273706
    [No Abstract]   [Full Text] [Related]  

  • 15. ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
    Skopkova M; Stufkova H; Rambani V; Stranecky V; Brennerova K; Kolnikova M; Pietrzykova M; Karhanek M; Noskova L; Tesarova M; Hansikova H; Gasperikova D
    Orphanet J Rare Dis; 2023 Apr; 18(1):92. PubMed ID: 37095554
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet.
    Xie Y; Su T; Liu Y; Xu S
    Seizure; 2024 Apr; 117():1-5. PubMed ID: 38262122
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial dysfunction caused by novel ATAD3A mutations.
    Dorison N; Gaignard P; Bayot A; Gelot A; Becker PH; Fourati S; Lebigot E; Charles P; Wai T; Therond P; Slama A
    Mol Genet Metab; 2020; 131(1-2):107-113. PubMed ID: 32933822
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis.
    Mori M; Kumada T; Inoue K; Nozaki F; Matsui K; Maruo Y; Yamada M; Suzuki H; Kosaki K; Shibata M
    Brain Dev; 2021 Jun; 43(6):724-728. PubMed ID: 33714664
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
    Altıntaş M; Yıldırım M; Uçar Çİ; Köse E; Bektaş Ö; Teber S
    Clin Neurol Neurosurg; 2023 Jul; 230():107772. PubMed ID: 37167844
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.
    Ünalp A; Köse M; Karaoğlu P; Güzin Y; Yılmaz Ü
    Turk J Pediatr; 2022; 64(4):747-753. PubMed ID: 36082649
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.