Similar articles for PMID: 32181591

Year	Number of Results
1993	2
1999	1
2000	1
2001	1
2002	1
2003	2
2004	1
2005	2
2006	5
2007	1
2008	3
2009	4
2010	3
2011	5
2012	4
2013	3
2014	11
2015	12
2016	6
2017	5
2018	7
2019	7
2020	18
2021	11
2022	4
2023	1
2024	1

1

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. Markovitz R, et al. Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17. Am J Med Genet A. 2020. PMID: 32181591 Free PMC article.

2

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Meyer AP, Forrest ME, Nicolau S, Wiszniewski W, Bland MP, Tsao CY, Antonellis A, Abreu NJ. Meyer AP, et al. Hum Mutat. 2022 Jul;43(7):869-876. doi: 10.1002/humu.24372. Epub 2022 Apr 21. Hum Mutat. 2022. PMID: 35332613 Free PMC article.

3

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. Huang Y, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1846. doi: 10.1002/mgg3.1846. Epub 2021 Dec 12. Mol Genet Genomic Med. 2022. PMID: 34898052 Free PMC article.

4

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. Forrester N, et al. J Neuromuscul Dis. 2020;7(2):137-143. doi: 10.3233/JND-200472. J Neuromuscul Dis. 2020. PMID: 31985473

5

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. James PA, et al. Neurology. 2006 Nov 14;67(9):1710-2. doi: 10.1212/01.wnl.0000242619.52335.bc. Neurology. 2006. PMID: 17101916

6

GARS1-Associated Axonal Neuropathy.

Markovitz R, Ghosh R, Lotze T, Potocki L. Markovitz R, et al. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301420 Free Books & Documents. Review.

7

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Zarkov M, Stojadinović A, Sekulić S, Barjaktarović I, Perić S, Keković G, Drasković B, Stević Z. Zarkov M, et al. Vojnosanit Pregl. 2015 Oct;72(10):859-63. doi: 10.2298/vsp140328072z. Vojnosanit Pregl. 2015. PMID: 26665550

8

A recurrent GARS mutation causes distal hereditary motor neuropathy.

Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. Lee DC, et al. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22. J Peripher Nerv Syst. 2019. PMID: 31628756 Free PMC article.

9

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. Griffin LB, et al. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681. Hum Mutat. 2014. PMID: 25168514 Free PMC article.

10

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. Dubourg O, et al. Neurology. 2006 Jun 13;66(11):1721-6. doi: 10.1212/01.wnl.0000218304.02715.04. Neurology. 2006. PMID: 16769947

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