Paul Gissen

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler, Christine Duncan, Patricia L. Musolino et al. · New England Journal of Medicine · 2017 · 575 citations · Full text

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 535 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Biochemistry +12

α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease

Marthe H. R. Ludtmann, Plamena R. Angelova, Mathew H. Horrocks et al. · Nature Communications · 2018 · 490 citations · Full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

Angela Schulz, Temitayo Ajayi, Nicola Specchio et al. · New England Journal of Medicine · 2018 · 456 citations