Showing results (21-30 of 28) with videos related to
Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
The Journal of Clinical Investigation|June 10, 2014
Missense dopamine transporter mutations associate with adult parkinsonism and ADHDFreja H Hansen, Tina Skjørringe, Saiqa Yasmeen, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.Science Translational Medicine|May 20, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonismJoanne Ng, Serena Barral, Carmen De La Fuente Barrigon, et al.Annals of Neurology|June 13, 2019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementationViorica Chelban, Matthew P Wilson, Jodi Warman Chardon, et al.Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.Pageof 3