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
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