Literature DB >> 30297209

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Andreas Traschütz1, Stefanie N Hayer1, Benjamin Bender2, Ludger Schöls1, Saskia Biskup3, Matthis Synofzik4.   

Abstract

Entities:  

Keywords:  Cannabinoids; Chorea; Hyperkinetic movement disorders; Leigh syndrome; Mitochondrial; Subthalamic nucleus

Mesh：

Substances：

Year:  2018        PMID： 30297209     DOI： 10.1016/j.parkreldis.2018.09.031

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  5 in total

1.  Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Authors:  Marcello Scala; Giorgia Brigati; Chiara Fiorillo; Claudia Nesti; Anna Rubegni; Marina Pedemonte; Claudio Bruno; Mariasavina Severino; Maria Derchi; Carlo Minetti; F M Santorelli
Journal:  Neurogenetics       Date:  2019-07-02       Impact factor: 2.660

2.  Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A.

Authors:  Josef Finsterer
Journal:  Neurogenetics       Date:  2019-08-03       Impact factor: 2.660

3.  Identification of extremely rare mitochondrial disorders by whole exome sequencing.

Authors:  Go Hun Seo; Arum Oh; Eun Na Kim; Yeonmi Lee; Jumi Park; Taeho Kim; Young-Min Lim; Gu-Hwan Kim; Chong Jai Kim; Han-Wook Yoo; Eunju Kang; Beom Hee Lee
Journal:  J Hum Genet       Date:  2019-08-26       Impact factor: 3.172

4.  Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.

Authors:  Anne K van Riesen; Saskia Biskup; Andrea A Kühn; Angela M Kaindl; Christoph van Riesen
Journal:  Mov Disord Clin Pract       Date:  2021-02-05

Review 5.  Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.

Authors:  Fei Wang; Deyu Zhang; Dejiu Zhang; Peifeng Li; Yanyan Gao
Journal:  Front Cell Dev Biol       Date:  2021-07-01
  5 in total

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