PubMed for id: 335784

Year	Number of Results
1993	1
1998	1
2001	1
2002	1
2003	1
2004	4
2005	4
2006	3
2007	3
2008	3
2009	5
2010	5
2011	7
2012	5
2013	6
2014	2
2015	7
2016	9
2017	10
2018	6
2019	5
2020	9
2021	5
2022	7
2023	6

1

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.

Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV. Ismailov SM, et al. Eur J Hum Genet. 2001 Aug;9(8):646-50. doi: 10.1038/sj.ejhg.5200686. Eur J Hum Genet. 2001. PMID: 11528513

2

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A. Greenbaum L, et al. Ann Clin Transl Neurol. 2021 Jun;8(6):1260-1268. doi: 10.1002/acn3.51362. Epub 2021 May 11. Ann Clin Transl Neurol. 2021. PMID: 33973728 Free PMC article.

3

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S. Abati E, et al. Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. doi: 10.1002/acn3.51364. Epub 2021 May 4. Ann Clin Transl Neurol. 2021. PMID: 33943041 Free PMC article.

4

Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.

Katz M, Davis M, Garton FC, Henderson R, Bharti V, Wray N, McCombe P. Katz M, et al. J Neurol Sci. 2020 Jun 15;413:116809. doi: 10.1016/j.jns.2020.116809. Epub 2020 Mar 27. J Neurol Sci. 2020. PMID: 32334137

5

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G, Tonali PA, Sabatelli M. Luigetti M, et al. J Neurol Sci. 2010 Nov 15;298(1-2):114-7. doi: 10.1016/j.jns.2010.09.008. Epub 2010 Sep 25. J Neurol Sci. 2010. PMID: 20870250

6

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.

Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO. Chung KW, et al. Exp Mol Med. 2008 Jun 30;40(3):304-12. doi: 10.3858/emm.2008.40.3.304. Exp Mol Med. 2008. PMID: 18587268 Free PMC article.

7

Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.

Naruse H, Okubo S, Sudo A, Mitsui J, Mikata T, Ishiura H, Morishita S, Tsuji S, Toda T. Naruse H, et al. J Peripher Nerv Syst. 2023 Sep;28(3):518-521. doi: 10.1111/jns.12567. Epub 2023 Jun 7. J Peripher Nerv Syst. 2023. PMID: 37249095

8

Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.

Shen X, Zhang J, Zhan F, Tian W, Jiang Q, Luan X, Zhang X, Cao L. Shen X, et al. Biomolecules. 2022 Sep 27;12(10):1382. doi: 10.3390/biom12101382. Biomolecules. 2022. PMID: 36291591 Free PMC article.

9

A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.

Taga A, Cornblath DR. Taga A, et al. J Peripher Nerv Syst. 2020 Sep;25(3):223-229. doi: 10.1111/jns.12395. Epub 2020 Jul 8. J Peripher Nerv Syst. 2020. PMID: 32639100 Review.

10

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

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