Patricia Maria de Carvalho Aguiar
Patricia Maria de Carvalho Aguiar
Hospital Israelita Albert Einstein- Instituto do Cérebro; Departamento de Neurologia e Neurocirurgia
Verified email at einstein.br
Title
Cited by
Cited by
Year
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
4972004
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
2432007
Classification and genetics of dystonia
PM de Carvalho Aguiar, LJ Ozelius
The Lancet Neurology 1 (5), 316-325, 2002
1892002
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
CW Hess, D Raymond, P de Carvalho Aguiar, S Frucht, J Shriberg, ...
Neurology 68 (7), 522-524, 2007
1202007
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
1142002
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
1042002
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
792004
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
712007
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
562013
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
552008
2Hereditary
EMJ Foncke, C Klein, J Koelman, PL Kramer, K Schilling, B Müller, ...
Clinical and functional studies in Myoclonus-Dystonia 34 (1), 1988-90, 1984
55*1984
Myoclonus–dystonia: Detection of novel, recurrent, and de novo SGCE mutations
K Hedrich, EM Meyer, B Schüle, N Kock, P de Carvalho Aguiar, K Wiegers, ...
Neurology 62 (7), 1229-1231, 2004
542004
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
442008
Milestones in Friedreich ataxia: more than a century and still learning
A Abrahão, JL Pedroso, P Braga-Neto, E Bor-Seng-Shu, ...
Neurogenetics 16 (3), 151-160, 2015
402015
Olfactory heterogeneity in LRRK2 related Parkinsonism
L Silveira‐Moriyama, RP Munhoz, M de J. Carvalho, S Raskin, ...
Movement disorders 25 (16), 2879-2883, 2010
402010
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
352010
Acoustic voice assessment in Parkinson's disease patients submitted to posteroventral pallidotomy
LF Mourão, PMC Aguiar, FAP Ferraz, MS Behlau, HB Ferraz
Arquivos de neuro-psiquiatria 63, 20-25, 2005
322005
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
312010
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
312008
Inherited myoclonus‐dystonia and epilepsy: Further evidence of an association?
S O'Riordan, LJ Ozelius, P de Carvalho Aguiar, M Hutchinson, M King, ...
Movement disorders 19 (12), 1456-1459, 2004
312004
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