Dystonia: genetics, phenomenology, and pathophysiology
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology
Reference9 articles.
1. Increased diagnostic yield in complex dystonia through exome sequencing;Wirth;Parkinsonism Relat Disord,2020
2. Monogenic variants in dystonia: an exome-wide sequencing study;Zech;Lancet Neurol,2020
3. Dystonia and dopamine: from phenomenology to pathophysiology;Ribot;Prog Neurobiol,2019
4. Inherited dystonias: clinical features and molecular pathways;Weisheit;Handb Clin Neurol,2018
5. Dystonia genes and their biological pathways;Jinnah;Neurobiol Dis,2019
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1. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation;Annals of Clinical and Translational Neurology;2024-04-22
2. Cholinergic Transmission in an Inducible Transgenic Mouse Model of Paroxysmal Dystonia;2024-03-17
3. Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains;Journal of Neuropathology & Experimental Neurology;2023-07-20
4. A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia;Frontiers in Neurology;2023-04-04
5. Single Cell transcriptional analysis ofex vivomodels of cortical and hippocampal development identifies unique longitudinal trends;2022-12-12
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