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 · 595 citations

Medicine, Hematology, Neurology +16

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 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

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 · 505 citations · Full text

Life Sciences, Biochemistry, Neuroscience +17

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 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

Angela Schulz, Temitayo Ajayi, Nicola Specchio et al. · New England Journal of Medicine · 2018 · 483 citations

Life Sciences, Neurology, Neuroscience +9