BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

517 related articles for article (PubMed ID: 12690580)

  • 1. 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]  

  • 2. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.
    Sambuughin N; Sivakumar K; Selenge B; Lee HS; Friedlich D; Baasanjav D; Dalakas MC; Goldfarb LG
    J Neurol Sci; 1998 Nov; 161(1):23-8. PubMed ID: 9879677
    [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. 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]  

  • 6. 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]  

  • 7. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
    Seburn KL; Nangle LA; Cox GA; Schimmel P; Burgess RW
    Neuron; 2006 Sep; 51(6):715-26. PubMed ID: 16982418
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. [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]  

  • 10. 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]  

  • 11. A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
    Yalcouyé A; Diallo SH; Coulibaly T; Cissé L; Diallo S; Samassékou O; Diarra S; Coulibaly D; Keita M; Guinto CO; Fischbeck K; Landouré G;
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00782. PubMed ID: 31173493
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
    Del Bo R; Locatelli F; Corti S; Scarlato M; Ghezzi S; Prelle A; Fagiolari G; Moggio M; Carpo M; Bresolin N; Comi GP
    Neurology; 2006 Mar; 66(5):752-4. PubMed ID: 16534118
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
    Hamaguchi A; Ishida C; Iwasa K; Abe A; Yamada M
    J Neurol; 2010 Jul; 257(7):1202-4. PubMed ID: 20169446
    [No Abstract]   [Full Text] [Related]  

  • 17. Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
    Lee HJ; Park J; Nakhro K; Park JM; Hur YM; Choi BO; Chung KW
    J Peripher Nerv Syst; 2012 Dec; 17(4):418-21. PubMed ID: 23279345
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.
    Huang Y; Bi B; Zhao P; Yu T; Luo S; Tan L; Liu Z; Liu J; He X
    Mol Genet Genomic Med; 2022 Jan; 10(1):e1846. PubMed ID: 34898052
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
    Markovitz R; Ghosh R; Kuo ME; Hong W; Lim J; Bernes S; Manberg S; Crosby K; Tanpaiboon P; Bharucha-Goebel D; Bonnemann C; Mohila CA; Mizerik E; Woodbury S; Bi W; Lotze T; Antonellis A; Xiao R; Potocki L
    Am J Med Genet A; 2020 May; 182(5):1167-1176. PubMed ID: 32181591
    [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 26.