Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism P de Carvalho Aguiar, KJ Sweadner, JT Penniston, J Zaremba, L Liu, ... Neuron 43 (2), 169-175, 2004 | 601 | 2004 |
The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene A Brashear, WB Dobyns, P de Carvalho Aguiar, M Borg, CJM Frijns, ... Brain 130 (3), 828-835, 2007 | 295 | 2007 |
Classification and genetics of dystonia PM de Carvalho Aguiar, LJ Ozelius The Lancet Neurology 1 (5), 316-325, 2002 | 206 | 2002 |
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers CW Hess, D Raymond, PDC Aguiar, S Frucht, J Shriberg, GA Heiman, ... Neurology 68 (7), 522-524, 2007 | 138 | 2007 |
ε‐sarcoglycan mutations found in combination with other dystonia gene mutations C Klein, L Liu, D Doheny, N Kock, B Müller, P de Carvalho Aguiar, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 117 | 2002 |
Phenotypic features of myoclonus-dystonia in three kindreds DO Doheny, MF Brin, CE Morrison, CJ Smith, RH Walker, S Abbasi, ... Neurology 59 (8), 1187-1196, 2002 | 112 | 2002 |
Genetic heterogeneity in ten families with myoclonus-dystonia B Schüle, N Kock, M Svetel, N Dragasevic, K Hedrich, ... Journal of Neurology, Neurosurgery & Psychiatry 75 (8), 1181-1185, 2004 | 89 | 2004 |
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites R Saunders‐Pullman, D Raymond, G Senthil, P Kramer, E Ohmann, ... American Journal of Medical Genetics Part A 143 (18), 2098-2105, 2007 | 83 | 2007 |
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis A McNeill, RM Wu, KY Tzen, PC Aguiar, JM Arbelo, P Barone, K Bhatia, ... PloS one 8 (7), e69190, 2013 | 74 | 2013 |
Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations D Raymond, R Saunders‐Pullman, P de Carvalho Aguiar, B Schule, ... Movement disorders: official journal of the Movement Disorder Society 23 (4 …, 2008 | 68 | 2008 |
Myoclonus–dystonia: Detection of novel, recurrent, and de novo SGCE mutations K Hedrich, EM Meyer, B Schule, N Kock, P de Carvalho Aguiar, K Wiegers, ... Neurology 62 (7), 1229-1231, 2004 | 58 | 2004 |
Genetic and environmental findings in early‐onset Parkinson's disease Brazilian patients P de Carvalho Aguiar, PS Lessa, CG Junior, O Barsottini, AC Felício, ... Movement Disorders 23 (9), 1228-1233, 2008 | 55 | 2008 |
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Milestones in Friedreich ataxia: more than a century and still learning A Abrahão, JL Pedroso, P Braga-Neto, E Bor-Seng-Shu, ... Neurogenetics 16, 151-160, 2015 | 51 | 2015 |
Degenerative parkinsonism in patients with psychogenic parkinsonism: a dopamine transporter imaging study AC Felicio, C Godeiro-Junior, TS Moriyama, MC Shih, MQ Hoexter, ... Clinical neurology and neurosurgery 112 (4), 282-285, 2010 | 44 | 2010 |
Olfactory heterogeneity in LRRK2 related Parkinsonism L Silveira‐Moriyama, RP Munhoz, M de J. Carvalho, S Raskin, ... Movement disorders 25 (16), 2879-2883, 2010 | 42 | 2010 |
Evaluation of patients with Clinically Unclear Parkinsonian Syndromes submitted to brain SPECT imaging using the technetium-99m labeled tracer TRODAT-1 AC Felicio, C Godeiro-Junior, MC Shih, V Borges, SMA Silva, ... Journal of the neurological sciences 291 (1-2), 64-68, 2010 | 37 | 2010 |
Using global team science to identify genetic Parkinson’s disease worldwide EJ Vollstedt, M Kasten, C Klein Annals of neurology 86 (2), 153, 2019 | 36 | 2019 |
Clinical features of dystonia in atypical parkinsonism C Godeiro-Junior, AC Felício, OGP Barsottini, PM Aguiar, S Silva, ... Arquivos de neuro-psiquiatria 66, 800-804, 2008 | 36 | 2008 |
Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort EJ Vollstedt, S Schaake, K Lohmann, S Padmanabhan, A Brice, S Lesage, ... Movement Disorders 38 (2), 286-303, 2023 | 35 | 2023 |