Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes-Reference-Cited by-同舟云学术

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes

Published:2022-09 Issue: Volume:102 Page:1-6
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Dzinovic Ivana,Boesch Sylvia,Škorvánek Matej,Necpál Ján,Švantnerová Jana,Pavelekova Petra,Havránková Petra,Tsoma Eugenia,Indelicato Elisabetta,Runkel Eva,Held Valentin,Weise David,Janzarik Wibke,Eckenweiler Matthias,Berweck Steffen,Mall Volker,Haslinger Bernhard,Jech Robert,Winkelmann Juliane,Zech Michael

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference38 articles.

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2. The importance of genetic testing for dystonia patients and translational research;Pozojevic;J. Neural. Transm.,2021

3. Increased diagnostic yield in complex dystonia through exome sequencing;Wirth;Park. Relat. Disord.,2020

4. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes;Kumar;Park. Relat. Disord.,2019

5. Monogenic variants in dystonia: an exome-wide sequencing study;Zech;Lancet Neurol.,2020

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1. Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients;Journal of Neurology;2024-05-22

2. NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies;International Journal of Molecular Sciences;2024-05-10

3. Involuntary movements and postures (Dystonia);Neurogenetics for the Practitioner;2024

4. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures;Genetics in Medicine;2023-12

5. De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia;European Journal of Medical Genetics;2023-08