| 1 |
Updating the classification of inherited neuropathies: Results of an international survey.
4
|
Magy L...Vallat JM
|
29429969
|
2018 |
| 2 |
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.
4
|
Benoy V...Van Den Bosch L
|
29415205
|
2018 |
| 3 |
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
4
|
Meyer-Schuman R...Antonellis A
|
28633377
|
2017 |
| 4 |
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
4
|
Oprescu SN...Antonellis A
|
28675565
|
2017 |
| 5 |
Timing, rates and spectra of human germline mutation.
4
|
Rahbari R...Hurles ME
|
26656846
|
2016 |
| 6 |
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
4
|
Antoniadi T...Burton-Jones S
|
26392352
|
2015 |
| 7 |
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
4
|
Griffin LB...Antonellis A
|
25168514
|
2014 |
| 8 |
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
4
|
DiVincenzo C...Higgins JJ
|
25614874
|
2014 |
| 9 |
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
4
|
Lee HJ...Chung KW
|
23279345
|
2012 |
| 10 |
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
4
|
Eskuri JM...Mathews KD
|
22462675
|
2012 |
| 11 |
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
4
|
Hamaguchi A...Yamada M
|
20169446
|
2010 |
| 12 |
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
4
|
Abe A...Hayasaka K
|
19329989
|
2009 |
| 13 |
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
4
|
Rohkamm B...Auer-Grumbach M
|
17663003
|
2007 |
| 14 |
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
4
|
James PA...Talbot K
|
17101916
|
2006 |
| 15 |
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
4
|
Seburn KL...Burgess RW
|
16982418
|
2006 |
| 16 |
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
4
|
Dubourg O...LeGuern E
|
16769947
|
2006 |
| 17 |
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
4
|
Del Bo R...Comi GP
|
16534118
|
2006 |
| 18 |
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
4
|
Sivakumar K...Goldfarb LG
|
16014653
|
2005 |
| 19 |
Molecular genetics of distal hereditary motor neuropathies.
4
|
Irobi J...Timmerman V
|
15358725
|
2004 |
| 20 |
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
4
|
Irobi J...Timmerman V
|
15122253
|
2004 |
| 21 |
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
4
|
Antonellis A...Green ED
|
12690580
|
2003 |
| 22 |
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.
4
|
Ellsworth RE...Green ED
|
10400924
|
1999 |
| 23 |
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.
4
|
Sambuughin N...Goldfarb LG
|
9879677
|
1998 |
| 24 |
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
4
|
Ionasescu V...Ionasescu R
|
8872480
|
1996 |
| 25 |
Glycyl-tRNA synthetase.
4
|
Freist W...Gauss DH
|
8839980
|
1996 |
| 26 |
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
4
|
Christodoulou K...Middleton LT
|
8541851
|
1995 |
| 27 |
Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis.
4
|
Ge Q...Targoff IN
|
7961834
|
1994 |
| 28 |
GARS1-Associated Axonal Neuropathy
38
|
Antonellis A...Sivakumar K
|
20301420
|
2006 |
