211 related articles for article (PubMed ID: 23279345)
1. 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]
2. 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]
3. 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]
4. 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]
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. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
Abe A; Hayasaka K
J Hum Genet; 2009 May; 54(5):310-2. PubMed ID: 19329989
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. [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]
11. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
[TBL] [Abstract][Full Text] [Related]
12. Inherited neuropathies: new genes don't fit old models.
Scherer SS
Neuron; 2006 Sep; 51(6):672-4. PubMed ID: 16982409
[TBL] [Abstract][Full Text] [Related]
13. A Novel Mutation of
Yu X; Chen B; Tang H; Li W; Fu Y; Zhang Z; Yan Y
Front Neurol; 2018; 9():571. PubMed ID: 30083128
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ; Nam DE; Choi YJ; Nam SH; Choi BO; Chung KW
Genes Genomics; 2020 Jun; 42(6):663-672. PubMed ID: 32314272
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies].
Sevilla T
Rev Neurol; 2000 Jan 1-15; 30(1):71-9. PubMed ID: 10743001
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Delgrande A; Tonali PA; Sabatelli M
Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]