scispace - formally typeset
N

Nicholas D. Mazarakis

Researcher at Imperial College London

Publications -  46
Citations -  1947

Nicholas D. Mazarakis is an academic researcher from Imperial College London. The author has contributed to research in topics: Transduction (genetics) & Motor neuron. The author has an hindex of 17, co-authored 46 publications receiving 1672 citations. Previous affiliations of Nicholas D. Mazarakis include Oxford BioMedica & Hammersmith Hospital.

Papers
More filters
Journal ArticleDOI

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

TL;DR: A unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred is reported, after candidate gene screening in a 14.52 cM region on chromosome 12q22-23 linked to disease.
Journal ArticleDOI

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.

TL;DR: It is reported that lentivector expressing human SMN was successfully used to restore SMN protein levels in SMA type 1 fibroblasts and extend survival by SMN expression constructs.
Journal ArticleDOI

Lentivirus-Mediated Gene Transfer to the Central Nervous System: Therapeutic and Research Applications

TL;DR: The applications of lentiviral vectors in therapy and research are discussed and the essential features that will ensure their translation to the clinic in the near future are highlighted.
Journal ArticleDOI

Dopamine Gene Therapy for Parkinson’s Disease in a Nonhuman Primate Without Associated Dyskinesia

TL;DR: A gene therapy protocol in which the genes that encode the key dopamine biosynthetic enzymes are introduced directly into the brain to produce a perpetual, artificial dopamine factory in neurons of the striatum, the basal ganglia nucleus that receives most of the substantia nigra–released dopamine.