| Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019 | 509 | 2019 |
| Clinical trials in rare disease: challenges and opportunities EF Augustine, HR Adams, JW Mink Journal of child neurology 28 (9), 1142-1150, 2013 | 224 | 2013 |
| Effect of creatine monohydrate on clinical progression in patients with Parkinson disease: a randomized clinical trial K Kieburtz, BC Tilley, JJ Elm, D Babcock, R Hauser, GW Ross, ... Jama 313 (6), 584-593, 2015 | 172 | 2015 |
| Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literature ML Yang, E Fullwood, J Goldstein, JW Mink Pediatrics 116 (6), 1427-1432, 2005 | 143 | 2005 |
| Classification and natural history of the neuronal ceroid lipofuscinoses JW Mink, EF Augustine, HR Adams, FJ Marshall, JM Kwon Journal of child neurology 28 (9), 1101-1105, 2013 | 141 | 2013 |
| Efficacy of nilotinib in patients with moderately advanced Parkinson disease: a randomized clinical trial T Simuni, B Fiske, K Merchant, CS Coffey, E Klingner, C Caspell-Garcia, ... JAMA neurology 78 (3), 312-320, 2021 | 95 | 2021 |
| Sex differences in clinical features of early, treated Parkinson’s disease EF Augustine, A Pérez, R Dhall, CC Umeh, A Videnovic, F Cambi, ... PloS one 10 (7), e0133002, 2015 | 70 | 2015 |
| Females experience a more severe disease course in Batten disease J Cialone, H Adams, EF Augustine, FJ Marshall, JM Kwon, N Newhouse, ... Journal of inherited metabolic disease 35, 549-555, 2012 | 70 | 2012 |
| Design innovations and baseline findings in a long‐term Parkinson's trial: The national institute of neurological disorders and stroke exploratory trials in Parkinson's Disease … JJ Elm, NINDS NET‐PD Investigators Movement Disorders 27 (12), 1513-1521, 2012 | 64 | 2012 |
| Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease) JM Kwon, H Adams, PG Rothberg, EF Augustine, FJ Marshall, ... Neurology 77 (20), 1801-1807, 2011 | 59 | 2011 |
| Delineation of the movement disorders associated with FOXG1 mutations A Papandreou, RB Schneider, EF Augustine, J Ng, K Mankad, E Meyer, ... Neurology 86 (19), 1794-1800, 2016 | 58 | 2016 |
| Suicidal thoughts and behaviors in children and adolescents with chronic tic disorders EA Storch, CE Hanks, JW Mink, JF McGuire, HR Adams, EF Augustine, ... Depression and anxiety 32 (10), 744-753, 2015 | 54 | 2015 |
| Deep phenotyping of Parkinson’s disease E Dorsey, L Omberg, E Waddell, JL Adams, R Adams, MR Ali, K Amodeo, ... Journal of Parkinson's Disease 10 (3), 855-873, 2020 | 49 | 2020 |
| Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease) HR Adams, JW Mink, University of Rochester Batten Center Study Group Journal of child neurology 28 (9), 1128-1136, 2013 | 48 | 2013 |
| Malignant melanoma in early‐treated Parkinson's disease: The NET‐PD trial R Constantinescu, J Elm, P Auinger, S Sharma, EF Augustine, L Khadim, ... Movement Disorders 29 (2), 263-265, 2014 | 36 | 2014 |
| Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis EF Augustine, HR Adams, CA Beck, A Vierhile, J Kwon, PG Rothberg, ... Developmental Medicine & Child Neurology 57 (4), 366-371, 2015 | 35 | 2015 |
| Short-term administration of mycophenolate is well-tolerated in CLN3 disease (juvenile neuronal ceroid lipofuscinosis) EF Augustine, CA Beck, HR Adams, S Defendorf, A Vierhile, D Timm, ... JIMD Reports, Volume 43, 117-124, 2019 | 32 | 2019 |
| Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease) HR Adams, CA Beck, E Levy, R Jordan, JM Kwon, FJ Marshall, A Vierhile, ... Developmental Medicine & Child Neurology 52 (7), 637-643, 2010 | 32 | 2010 |
| A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface C Tang, J Han, S Dalvi, K Manian, L Winschel, S Volland, CA Soto, ... Communications biology 4 (1), 161, 2021 | 28 | 2021 |
| Tic disorders are associated with lower child and parent quality of life and worse family functioning J Vermilion, E Augustine, HR Adams, A Vierhile, AB Lewin, A Thatcher, ... Pediatric neurology 105, 48-54, 2020 | 28 | 2020 |
Jonathan W MinkProfessor of Neurology, University of RochesterVerified email at urmc.rochester.edu
