AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism-Reference-Cited by-同舟云学术

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

Published:2022-04 Issue: Volume:97 Page:52-56
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Garavaglia Barbara,Vallian Sadeq,Romito Luigi M.,Straccia Giulia,Capecci Marianna,Invernizzi Federica,Andrenelli Elisa,Kazemi Arezu,Boesch Sylvia,Kopajtich Robert,Olfati Nahid,Shariati Mohammad,Shoeibi Ali,Sadr-Nabavi Ariane,Prokisch Holger,Winkelmann Juliane,Zech Michael

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference30 articles.

1. Dystonia;Balint;Nat. Rev. Dis. Primers,2018

2. Mutations in HPCA cause autosomal-recessive primary isolated dystonia;Charlesworth;Am. J. Hum. Genet.,2015

3. HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype;Atasu;Mov. Disord.,2018

4. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA;Camargos;Lancet Neurol,2008

5. DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family;Zech;Mov. Disord.,2014

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3. Variable Age at Onset in AOPEP‐Associated Dystonia;Movement Disorders;2023-12

4. Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants;International Journal of Molecular Sciences;2023-06-28

5. Mutation screening of AOPEP variants in a large dystonia cohort;Journal of Neurology;2023-03-18