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 *

141 related articles for article (PubMed ID: 37746452)

  • 1. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.
    Finsterer J; Mehri S
    Cureus; 2023 Aug; 15(8):e43969. PubMed ID: 37746452
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review].
    Pan Z; Wu TH; Chen C; Peng P; He YW; Yi WZ; Yin F; Peng J
    Zhonghua Er Ke Za Zhi; 2021 May; 59(5):400-406. PubMed ID: 33902225
    [No Abstract]   [Full Text] [Related]  

  • 3. Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
    Seaver LH; DeRoos S; Andersen NJ; Betz B; Prokop J; Lannen N; Jordan R; Rajasekaran S
    Pediatr Neurol; 2018 Dec; 89():26-30. PubMed ID: 30327238
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
    Yagasaki H; Sano F; Narusawa H; Watanabe D; Kaga Y; Kobayashi K; Asano Y; Nagata M; Yonei A; Inukai T
    Am J Med Genet A; 2022 Aug; 188(8):2466-2471. PubMed ID: 35703918
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
    Yang N; Chen L; Zhang Y; Wu X; Hao Y; Yang F; Yang Z; Liang J
    BMC Pediatr; 2024 Feb; 24(1):96. PubMed ID: 38310242
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Study of novel
    Zhang Y; Zhao X; Xu Y; Chen L; Li N; Yao R; Wang X; Wang J; Yu T
    Transl Pediatr; 2022 Apr; 11(4):448-457. PubMed ID: 35558980
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Clinical phenotypes of TBC1D24 gene related epilepsy].
    Zhang J; Zhang YH; Chen JY; Zhang LP; Zeng Q; Tian XJ; Yang ZX; Wu Y; Yang XL; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):667-673. PubMed ID: 30180405
    [No Abstract]   [Full Text] [Related]  

  • 8. Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
    Štěrbová K; Vlčková M; Hansíková H; Sebroňová V; Sedláčková L; Pavlíček P; Laššuthová P
    Neurogenetics; 2021 Oct; 22(4):359-364. PubMed ID: 34415467
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 10. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
    Shen YW; Weng ZF; He W; Chen YH; Wang QH; Zou LP; Liu LY; Shang-Guan HK
    Zhonghua Er Ke Za Zhi; 2020 Dec; 58(12):1006-1012. PubMed ID: 33256324
    [No Abstract]   [Full Text] [Related]  

  • 11. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.
    Chan DL; Rudinger-Thirion J; Frugier M; Riley LG; Ho G; Kothur K; Mohammad SS
    Brain Dev; 2022 Feb; 44(2):142-147. PubMed ID: 34774383
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype.
    Nolan DA; Chen B; Michon AM; Salatka E; Arndt D
    Epileptic Disord; 2019 Feb; 21(1):112-116. PubMed ID: 30767894
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
    Khodaeian M; Bitarafan F; Garrousi F; Sardehie EA; Pak N; Hosseinpour S; Shakiba M; Falah M; Garshasbi M; Tavasoli AR
    J Clin Lab Anal; 2023 Nov; 37(21-22):e24983. PubMed ID: 37950505
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 15. The phenotypic variability and natural history of NARS2 associated disease.
    Sofou K; Kollberg G; Hedberg-Oldfors C; Oldfors A
    Eur J Paediatr Neurol; 2021 Mar; 31():31-37. PubMed ID: 33596490
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic
    Hu W; Fang H; Peng Y; Li L; Guo D; Tang J; Yi J; Liu Q; Qin W; Wu L; Ning Z
    Front Neurosci; 2022; 16():1076183. PubMed ID: 36620461
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.
    Kashiki T; Kido J; Momosaki K; Kusunoki S; Ozasa S; Nomura K; Imai-Okazaki A; Tsuruoka T; Murayama K; Koga Y; Nakamura K
    Brain Dev; 2022 Jan; 44(1):56-62. PubMed ID: 34452803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.
    Yang X; Fang Z; Yan L; He X; Luo H; Han Z; Gui J; Cheng M; Jiang L
    Seizure; 2022 Dec; 103():137-147. PubMed ID: 36417830
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
    Mizuguchi T; Nakashima M; Kato M; Yamada K; Okanishi T; Ekhilevitch N; Mandel H; Eran A; Toyono M; Sawaishi Y; Motoi H; Shiina M; Ogata K; Miyatake S; Miyake N; Saitsu H; Matsumoto N
    J Hum Genet; 2017 Apr; 62(5):525-529. PubMed ID: 28077841
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
    Han XD; Fang F; Li H; Liu ZM; Shi YQ; Wang JL; Ren XT; Ding CH; Chen CH; Li JW; Zhang WH; Deng J
    Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):844-851. PubMed ID: 31665838
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.