PubMed for id: 389169

Year	Number of Results
1993	1
1994	3
1996	3
1997	3
1998	1
1999	3
2000	2
2001	5
2002	3
2003	6
2004	5
2005	4
2006	3
2007	6
2008	3
2009	5
2010	7
2011	16
2012	7
2013	7
2014	8
2015	14
2016	15
2017	8
2018	13
2019	14
2020	14
2021	13
2022	18
2023	21
2024	5

1

Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.

Zanfardino P, Amati A, Petracca EA, Santorelli FM, Petruzzella V. Zanfardino P, et al. Acta Myol. 2022 Dec 31;41(4):201-206. doi: 10.36185/2532-1900-085. eCollection 2022. Acta Myol. 2022. PMID: 36793649 Free PMC article.

2

Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.

Franco A, Dang X, Zhang L, Molinoff PB, Dorn GW 2nd. Franco A, et al. J Pharmacol Exp Ther. 2022 Nov;383(2):137-148. doi: 10.1124/jpet.122.001332. Epub 2022 Sep 2. J Pharmacol Exp Ther. 2022. PMID: 36507849 Free PMC article.

3

A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model.

Sato-Yamada Y, Strickland A, Sasaki Y, Bloom J, DiAntonio A, Milbrandt J. Sato-Yamada Y, et al. J Clin Invest. 2022 Dec 1;132(23):e161566. doi: 10.1172/JCI161566. J Clin Invest. 2022. PMID: 36287202 Free PMC article.

4

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.

5

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2.

Xu J, Fu Y, Xia W, He J, Zou Y, Ruan W, Lou Q, Li Y, Pan J, Li H, Chen W. Xu J, et al. Stem Cell Res. 2019 Apr;36:101411. doi: 10.1016/j.scr.2019.101411. Epub 2019 Feb 20. Stem Cell Res. 2019. PMID: 30807887 Free article.

6

Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.

Hikiami R, Yamashita H, Koita N, Jingami N, Sawamoto N, Furukawa K, Kawai H, Terashima T, Oka N, Hashiguchi A, Takashima H, Urushitani M, Takahashi R. Hikiami R, et al. J Hum Genet. 2018 Jan;63(1):89-92. doi: 10.1038/s10038-017-0353-3. Epub 2017 Nov 13. J Hum Genet. 2018. PMID: 29215088

7

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Bombelli F, et al. JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. JAMA Neurol. 2014. PMID: 24957169 Review.

8

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.

Marchesi C, Ciano C, Salsano E, Nanetti L, Milani M, Gellera C, Taroni F, Fabrizi GM, Uncini A, Pareyson D. Marchesi C, et al. Neuromuscul Disord. 2011 Feb;21(2):129-31. doi: 10.1016/j.nmd.2010.09.009. Epub 2010 Oct 14. Neuromuscul Disord. 2011. PMID: 20951041

9

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.

Cartoni R, Martinou JC. Cartoni R, et al. Exp Neurol. 2009 Aug;218(2):268-73. doi: 10.1016/j.expneurol.2009.05.003. Epub 2009 May 8. Exp Neurol. 2009. PMID: 19427854 Review.

10

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N. Zhao C, et al. Cell. 2001 Jun 1;105(5):587-97. doi: 10.1016/s0092-8674(01)00363-4. Cell. 2001. PMID: 11389829 Free article.

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