Jennifer M. Kwon

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu et al. · Nature · 1998 · 3.5K citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +8

Variations in GABRA2, Encoding the α2 Subunit of the GABAA Receptor, Are Associated with Alcohol Dependence and with Brain Oscillations

Howard J. Edenberg, Danielle M. Dick, Xiaoling Xuei et al. · The American Journal of Human Genetics · 2004 · 657 citations · Full text

Synaptic Transmission, Neurotransmitter, Brain Science +17

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven, Peter De Jonghe, Katrien Coen et al. · The American Journal of Human Genetics · 2003 · 452 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Genetic Disorder +7

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

John Day, Richard S. Finkel, Claudia A. Chiriboga et al. · The Lancet Neurology · 2021 · 449 citations

Rare Diseases, Spinal Cord Injury, Medicine +5

Susceptibility Locus for Alzheimer's Disease on Chromosome 10

Amanda Myers, Peter Holmans, Helen Marshall et al. · Science · 2000 · 388 citations