Research

Find the latest scientific research and published papers on DHDDS

Published Papers

The natural history of progressive myoclonus ataxia by Sterre van der Veen [...] Marina A J Tijssen - June 2024
Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus by Lv Liu [...] Fang Wang - Sept 2023
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene by Ting Lv […] Guang-Lu Yang - August 2023
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder by Sahil Mehta, Vivek La. JMD - March 2023
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants by Jehan Mousa[…]Eva Morava - ScienceDirect, Sept 2022
DHDDS and NUS1: a converging pathway and common phenotype by L. Williams, J. Qiu, S. Waller[...]V. Fung - International Parkinson & Movement Disorder Society, Meeting Abstracts, 2022
Antisense therapies in neurological diseases by Jean-Baptiste Brunet de Courssou[...]Louise-Laure Mariani - Brain, Volume 145, Issue 3, March 2022
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS by Seondeuk Kim, Man Jin Kim[…]Jangsup Moon - Wiley Online Library, Nov 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Case Study of 25 Patients by Serena Galosi, Ben H Edani[…]Vincenzo Leuzzi - NIH, Aug 2021
DHDDS related epilepsy–Report of familial cases and review of the literature by Katy Wood, Tara Montgomery, Anita M Devlin - June 2021
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes by Carolina Courage[…]Anna-Elina Lehesjoki - NIH, April 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency - by Heather Flanagan-Steet & Richard Steet - Genetics in Medicine, March 2021
Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder by Gianluca Piccolo[...]Pasquale Striano - NIH, July 2020
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy by Noriko Togashi[…]Kazuhiro Haginova - Brain and Development, July 2020
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania by Tyson L. Ware, Samuel F. Berkovic - NIH, July 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Fadi F. Hamdan[…]Jacques L. Michaud - NIH, Nov 2017