Research

Find the latest scientific research and published papers on DHDDS

Published Papers & Podcasts

DHDDS-related epilepsy with hippocampal atrophy: a case report Álvaro de Oliveira Franco […] Carolina Machado Torres - November 2024
Fuel It Still - by Ethan O. Perlstein, Ph.D. Boosting levels of the metabolic fuel NAD+ rescues DHDDS deficiency in a yeast avatar - October 2024
Heterozygous DHDDS variants–JIMD Podcasts – Apple Podcasts Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al - August 2024
The natural history of progressive myoclonus ataxia by Sterre van der Veen [...] Marina A J Tijssen - June 2024
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
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency - by Heather Flanagan-Steet & Richard Steet - Genetics in Medicine, March 2021