Similar articles for PMID: 30394614

Year	Number of Results
1993	1
1997	1
1998	1
1999	3
2000	2
2001	3
2002	3
2003	7
2004	5
2005	3
2006	8
2007	3
2008	1
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2010	9
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2012	8
2013	9
2014	11
2015	12
2016	12
2017	13
2018	9
2019	17
2020	11
2021	16
2022	16
2023	5
2024	0

1

Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.

Nan H, Takaki R, Hata T, Ichinose Y, Tsuchiya M, Koh K, Takiyama Y. Nan H, et al. J Peripher Nerv Syst. 2019 Mar;24(1):156-160. doi: 10.1111/jns.12289. Epub 2018 Nov 23. J Peripher Nerv Syst. 2019. PMID: 30394614

2

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. Sun A, et al. Neurol Res. 2015 Sep;37(9):782-7. doi: 10.1179/1743132815Y.0000000055. Epub 2015 May 22. Neurol Res. 2015. PMID: 26000875

3

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; H3Africa Consortium. Yalcouyé A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00782. doi: 10.1002/mgg3.782. Epub 2019 Jun 7. Mol Genet Genomic Med. 2019. PMID: 31173493 Free PMC article.

4

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A. Berciano J, et al. J Neurol. 2017 Aug;264(8):1655-1677. doi: 10.1007/s00415-017-8474-3. Epub 2017 Mar 31. J Neurol. 2017. PMID: 28364294 Review.

5

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P. Claeys KG, et al. Brain. 2009 Jul;132(Pt 7):1741-52. doi: 10.1093/brain/awp115. Epub 2009 Jun 5. Brain. 2009. PMID: 19502294 Free PMC article.

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. 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.

7

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. Sivakumar K, et al. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653

8

[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. Kawakami N, et al. Rinsho Shinkeigaku. 2014;54(11):911-5. doi: 10.5692/clinicalneurol.54.911. Rinsho Shinkeigaku. 2014. PMID: 25420567 Japanese.

9

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

Abe A, Hayasaka K. Abe A, et al. J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27. J Hum Genet. 2009. PMID: 19329989

10

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. Del Bo R, et al. Neurology. 2006 Mar 14;66(5):752-4. doi: 10.1212/01.wnl.0000201275.18875.ac. Neurology. 2006. PMID: 16534118

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