HPCA-related dystonia: Too rare to be found?
Author:
Affiliation:
1. Institute of Neurology CCS, School of Medicine, University of Belgrade; Belgrade Serbia
2. Institute for Human Genetics, Faculty of Medicine, University of Belgrade; Belgrade Serbia
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference6 articles.
1. Genetics in dystonia;Klein;Parkinsonism Relat Disord,2014
2. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families;Ma;Mov Disord,2015
3. Mutations in HPCA cause autosomal-recessive primary isolated dystonia;Charlesworth;Am J Hum Genet,2015
4. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov Disord,2013
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1. Benign Hereditary Chorea as a Manifestation of HPCA Mutation;Movement Disorders Clinical Practice;2022-10-10
2. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing;Parkinsonism & Related Disorders;2022-09
3. Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review;Movement Disorders Clinical Practice;2022-08-23
4. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism;Parkinsonism & Related Disorders;2022-04
5. Genetic Dystonias: Update on Classification and New Genetic Discoveries;Current Neurology and Neuroscience Reports;2021-02-09
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