BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 19412816)

  • 1. Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.
    Blumen SC; Drory VE; Sadeh M; El-Ad B; Soimu U; Groozman GB; Bouchard JP; Goldfarb LG
    Amyotroph Lateral Scler; 2010; 11(1-2):237-9. PubMed ID: 19412816
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
    Sivakumar K; Kyriakides T; Puls I; Nicholson GA; Funalot B; Antonellis A; Sambuughin N; Christodoulou K; Beggs JL; Zamba-Papanicolaou E; Ionasescu V; Dalakas MC; Green ED; Fischbeck KH; Goldfarb LG
    Brain; 2005 Oct; 128(Pt 10):2304-14. PubMed ID: 16014653
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
    Dubourg O; Azzedine H; Yaou RB; Pouget J; Barois A; Meininger V; Bouteiller D; Ruberg M; Brice A; LeGuern E
    Neurology; 2006 Jun; 66(11):1721-6. PubMed ID: 16769947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
    Antonellis A; Lee-Lin SQ; Wasterlain A; Leo P; Quezado M; Goldfarb LG; Myung K; Burgess S; Fischbeck KH; Green ED
    J Neurosci; 2006 Oct; 26(41):10397-406. PubMed ID: 17035524
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
    Forrester N; Rattihalli R; Horvath R; Maggi L; Manzur A; Fuller G; Gutowski N; Rankin J; Dick D; Buxton C; Greenslade M; Majumdar A
    J Neuromuscul Dis; 2020; 7(2):137-143. PubMed ID: 31985473
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.
    Nafisinia M; Riley LG; Gold WA; Bhattacharya K; Broderick CR; Thorburn DR; Simons C; Christodoulou J
    PLoS One; 2017; 12(6):e0178125. PubMed ID: 28594869
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
    Griffin LB; Sakaguchi R; McGuigan D; Gonzalez MA; Searby C; Züchner S; Hou YM; Antonellis A
    Hum Mutat; 2014 Nov; 35(11):1363-71. PubMed ID: 25168514
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
    Andreadou E; Christodoulou K; Manta P; Karandreas N; Loukaidis P; Sfagos C; Vassilopoulos D
    Neurologist; 2009 May; 15(3):156-60. PubMed ID: 19430273
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
    Antonellis A; Ellsworth RE; Sambuughin N; Puls I; Abel A; Lee-Lin SQ; Jordanova A; Kremensky I; Christodoulou K; Middleton LT; Sivakumar K; Ionasescu V; Funalot B; Vance JM; Goldfarb LG; Fischbeck KH; Green ED
    Am J Hum Genet; 2003 May; 72(5):1293-9. PubMed ID: 12690580
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease.
    Misra UK; Kalita J; Mishra VN; Kesari A; Mittal B
    Arch Neurol; 2005 Jan; 62(1):120-3. PubMed ID: 15642858
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A recurrent GARS mutation causes distal hereditary motor neuropathy.
    Lee DC; Meyer-Schuman R; Bacon C; Shy ME; Antonellis A; Scherer SS
    J Peripher Nerv Syst; 2019 Dec; 24(4):320-323. PubMed ID: 31628756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
    Liao YC; Liu YT; Tsai PC; Chang CC; Huang YH; Soong BW; Lee YC
    PLoS One; 2015; 10(8):e0133423. PubMed ID: 26244500
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
    Eskuri JM; Stanley CM; Moore SA; Mathews KD
    J Peripher Nerv Syst; 2012 Mar; 17(1):132-4. PubMed ID: 22462675
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
    McMillan HJ; Schwartzentruber J; Smith A; Lee S; Chakraborty P; Bulman DE; Beaulieu CL; Majewski J; Boycott KM; Geraghty MT
    BMC Med Genet; 2014 Mar; 15():36. PubMed ID: 24669931
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.
    Sun A; Liu X; Zheng M; Sun Q; Huang Y; Fan D
    Neurol Res; 2015 Sep; 37(9):782-7. PubMed ID: 26000875
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].
    Kawakami N; Komatsu K; Yamashita H; Uemura K; Oka N; Takashima H; Takahashi R
    Rinsho Shinkeigaku; 2014; 54(11):911-5. PubMed ID: 25420567
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
    Achilli F; Bros-Facer V; Williams HP; Banks GT; AlQatari M; Chia R; Tucci V; Groves M; Nickols CD; Seburn KL; Kendall R; Cader MZ; Talbot K; van Minnen J; Burgess RW; Brandner S; Martin JE; Koltzenburg M; Greensmith L; Nolan PM; Fisher EM
    Dis Model Mech; 2009; 2(7-8):359-73. PubMed ID: 19470612
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hirayama's disease: an Italian single center experience and review of the literature.
    Vitale V; Caranci F; Pisciotta C; Manganelli F; Briganti F; Santoro L; Brunetti A
    Quant Imaging Med Surg; 2016 Aug; 6(4):364-373. PubMed ID: 27709072
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.
    Vinogradova ES; Nikonov OS; Nikonova EY
    Biochemistry (Mosc); 2021 Jan; 86(Suppl 1):S12-S23. PubMed ID: 33827397
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase.
    Lee SJ; Seo AJ; Park BS; Jo HW; Huh Y
    J Korean Med Sci; 2014 Aug; 29(8):1138-44. PubMed ID: 25120326
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.