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 *

137 related articles for article (PubMed ID: 31106652)

  • 1.
    Forman EB; Gorman KM; Ennis S; King MD
    J Child Neurol; 2019 Sep; 34(10):621. PubMed ID: 31106652
    [TBL] [Abstract][Full Text] [Related]  

  • 2. New insights into the phenotype of FARS2 deficiency.
    Vantroys E; Larson A; Friederich M; Knight K; Swanson MA; Powell CA; Smet J; Vergult S; De Paepe B; Seneca S; Roeyers H; Menten B; Minczuk M; Vanlander A; Van Hove J; Van Coster R
    Mol Genet Metab; 2017 Dec; 122(4):172-181. PubMed ID: 29126765
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.
    Meszarosova AU; Seeman P; Jencik J; Drabova J; Cibochova R; Stellmachova J; Safka Brozkova D
    Neurosci Lett; 2020 Mar; 721():134800. PubMed ID: 32007496
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
    Yang Y; Liu W; Fang Z; Shi J; Che F; He C; Yao L; Wang E; Wu Y
    Hum Mutat; 2016 Feb; 37(2):165-9. PubMed ID: 26553276
    [TBL] [Abstract][Full Text] [Related]  

  • 5. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
    Almannai M; Wang J; Dai H; El-Hattab AW; Faqeih EA; Saleh MA; Al Asmari A; Alwadei AH; Aljadhai YI; AlHashem A; Tabarki B; Lines MA; Grange DK; Benini R; Alsaman AS; Mahmoud A; Katsonis P; Lichtarge O; Wong LC
    Mol Genet Metab; 2018 Nov; 125(3):281-291. PubMed ID: 30177229
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
    Barcia G; Rio M; Assouline Z; Zangarelli C; Roux CJ; de Lonlay P; Steffann J; Desguerre I; Munnich A; Bonnefont JP; Boddaert N; Rötig A; Metodiev MD; Ruzzenente B
    Eur J Hum Genet; 2021 Mar; 29(3):533-538. PubMed ID: 33168986
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
    Zhang X; Xiang F; Li D; Yang F; Yu S; Wang X
    BMC Neurol; 2024 Jan; 24(1):15. PubMed ID: 38166857
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A patient with juvenile-onset refractory status epilepticus caused by two novel compound heterozygous mutations in FARS2 gene.
    Chen Z; Zhang Y
    Int J Neurosci; 2019 Nov; 129(11):1094-1097. PubMed ID: 31329004
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
    Vernon HJ; McClellan R; Batista DA; Naidu S
    Am J Med Genet A; 2015 May; 167A(5):1147-51. PubMed ID: 25851414
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
    Hotchkiss L; Donkervoort S; Leach ME; Mohassel P; Bharucha-Goebel DX; Bradley N; Nguyen D; Hu Y; Gurgel-Giannetti J; Bönnemann CG
    J Child Neurol; 2016 Aug; 31(9):1114-9. PubMed ID: 27034427
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
    Chen W; Rehsi P; Thompson K; Yeo M; Stals K; He L; Schimmel P; Chrzanowska-Lightowlers ZMA; Wakeling E; Taylor RW; Kuhle B
    Mol Genet Metab; 2023 Nov; 140(3):107657. PubMed ID: 37523899
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.
    Walker MA; Mohler KP; Hopkins KW; Oakley DH; Sweetser DA; Ibba M; Frosch MP; Thibert RL
    J Child Neurol; 2016 Aug; 31(9):1127-37. PubMed ID: 27095821
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
    Raviglione F; Conte G; Ghezzi D; Parazzini C; Righini A; Vergaro R; Legati A; Spaccini L; Gasperini S; Garavaglia B; Mastrangelo M
    Am J Med Genet A; 2016 Nov; 170(11):3004-3007. PubMed ID: 27549011
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
    Li L; Ma J; Wang J; Dong L; Liu S
    Eur J Med Res; 2022 Sep; 27(1):184. PubMed ID: 36155627
    [TBL] [Abstract][Full Text] [Related]  

  • 15. C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia.
    Ramesh R; Deenadayalu A; Bhattacharjee S; Paramanandam V
    Parkinsonism Relat Disord; 2021 Aug; 89():146-147. PubMed ID: 34298215
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
    Ylikallio E; Kim D; Isohanni P; Auranen M; Kim E; Lönnqvist T; Tyynismaa H
    Eur J Hum Genet; 2015 Oct; 23(10):1427-30. PubMed ID: 25585697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
    Schubert SF; Hoffjan S; Dekomien G
    Mol Cell Probes; 2016 Feb; 30(1):53-5. PubMed ID: 26714052
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
    Tariq H; Naz S
    Neurogenetics; 2017 Apr; 18(2):105-109. PubMed ID: 28124177
    [TBL] [Abstract][Full Text] [Related]  

  • 19. FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
    Cho JS; Kim SH; Kim HY; Chung T; Kim D; Jang S; Lee SB; Yoo SK; Shin J; Kim JI; Kim H; Hwang H; Chae JH; Choi J; Kim KJ; Lim BC
    Epilepsy Res; 2017 Jan; 129():118-124. PubMed ID: 28043061
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.
    Kartvelishvili E; Tworowski D; Vernon H; Moor N; Wang J; Wong LJ; Chrzanowska-Lightowlers Z; Safro M
    Protein Sci; 2017 Aug; 26(8):1505-1516. PubMed ID: 28419689
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.