PubMed (Bookshelf cited) for id: 140747

Year	Number of Results
1993	1
1995	1
1997	1
1998	1
2000	1
2001	1
2003	1
2004	2
2005	2
2006	4
2008	1
2011	4
2014	1
2015	2
2016	1
2017	6
2018	5
2019	3
2020	3
2023	0

1

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.

2

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

3

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Gentile L, et al. Neurol Sci. 2020 May;41(5):1239-1243. doi: 10.1007/s10072-019-04219-1. Epub 2020 Jan 4. Neurol Sci. 2020. PMID: 31902012

4

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH, Lin KP, Guo YC, Tsai YS, Liao YC, Lee YC. Hsu YH, et al. Ann Clin Transl Neurol. 2019 May 27;6(6):1090-1101. doi: 10.1002/acn3.50797. eCollection 2019 Jun. Ann Clin Transl Neurol. 2019. PMID: 31211173 Free PMC article.

5

Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).

Lin HP, Ho KWD, Jerath NU. Lin HP, et al. J Neuromuscul Dis. 2019;6(2):259-261. doi: 10.3233/JND-190384. J Neuromuscul Dis. 2019. PMID: 31127728

6

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. Dankwa L, et al. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21. Neuromuscul Disord. 2019. PMID: 30642740 Free PMC article.

7

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.

Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Züchner S, Bonnefond A, Froguel P, Christin-Maitre S, Delemer B, Fève B, Laville M, Robert J, Tenenbaum F, Lascols O, Vigouroux C, Jéru I. Capel E, et al. J Clin Lipidol. 2018 Nov-Dec;12(6):1420-1435. doi: 10.1016/j.jacl.2018.07.009. Epub 2018 Jul 25. J Clin Lipidol. 2018. PMID: 30158064

8

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM. Morrow JM, et al. Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17. Neurology. 2018. PMID: 30120135 Free PMC article.

9

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

10

Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.

Milley GM, Varga ET, Grosz Z, Nemes C, Arányi Z, Boczán J, Diószeghy P, Molnár MJ, Gál A. Milley GM, et al. Neuromuscul Disord. 2018 Jan;28(1):38-43. doi: 10.1016/j.nmd.2017.08.007. Epub 2017 Sep 8. Neuromuscul Disord. 2018. PMID: 29174527

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