A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference5 articles.
1. Classification of progressive myoclonus epilepsies and related disorders. Marseille Consensus Group;Group;Ann. Neurol.,1990
2. Progressive myoclonus ataxia: time for a new definition?;van der Veen;Mov. Disord.,2018
3. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am. J. Hum. Genet.,2017
4. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa;Zuchner;Am. J. Hum. Genet.,2011
5. Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy;Togashi;Brain Dev.,2020
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1. The natural history of progressive myoclonus ataxia;Neurobiology of Disease;2024-09
2. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants;Journal of Inherited Metabolic Disease;2024-06-21
3. DHDDS -related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder;International Journal of Neuroscience;2024-03-19
4. DHDDS and NUS1: A Converging Pathway and Common Phenotype;Movement Disorders Clinical Practice;2023-11-28
5. Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus;Frontiers in Genetics;2023-10-10
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