James M. Polke

Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL

Julie W. Rutten, Hans G. Dauwerse, Gido Gravesteijn et al. · Annals of Clinical and Translational Neurology · 2016 · 204 citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich et al. · Brain · 2014 · 200 citations · Full text

Medicine, Neurology, Neuroscience +17

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Iris Trender‐Gerhard, Mary G. Sweeney, Petra Schwingenschuh et al. · Journal of Neurology Neurosurgery & Psychiatry · 2009 · 175 citations

Life Sciences, Genetics, Neurology +10

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

Lucía Schottlaender, James M. Polke, Helen Ling et al. · Neurobiology of Aging · 2014 · 49 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Simona Balestrini, Matthias J. Koepp, Sonia Gandhi et al. · Epilepsy & Behavior · 2020 · 16 citations · Full text

Medicine, Neurology, Epilepsy +13