Dystonic Tremor in Adult-onset DYT-<i>KMT2B</i>-Reference-Cited by-同舟云学术

Dystonic Tremor in Adult-onset DYT-<i>KMT2B</i>

Published:2022-08-01 Issue:15 Volume:61 Page:2357-2360
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Shimazaki Rui¹,Ikezawa Jun¹,Okiyama Ryoichi¹,Azuma Kenko²,Akagawa Hiroyuki²,Takahashi Kazushi¹

Affiliation:

1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan

2. Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/61/15/61_8700-21/_pdf

Reference13 articles.

1. 1. Zech M, Boesch S, Esther, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am J Hum Genet 99: 1377-1387, 2016.

2. 2. Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol 22: 245-256, 2018.

3. 3. Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study. Mov Disord 34: 1516-1527, 2019.

4. 4. Cif L, Demailly D, Lin JP, et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143: 3242-3261, 2020.

5. 5. Zech M, Jech R, Boesch S, et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19: 908-918, 2020.

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