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Patricia Maciel
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
9072020
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
P Maciel, C Gaspar, AL DeStefano, I Silveira, P Coutinho, J Radvany, ...
American journal of human genetics 57 (1), 54, 1995
3511995
Developmental absence of maxillary lateral incisors in the Portuguese population
T Pinho, P Tavares, P Maciel, C Pollmann
The European Journal of Orthodontics 27 (5), 443-449, 2005
1732005
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
1702013
Identification of novel genetic causes of Rett syndrome-like phenotypes
F Lopes, M Barbosa, A Ameur, G Soares, J de Sá, AI Dias, G Oliveira, ...
Journal of medical genetics 53 (3), 190-199, 2016
1622016
Improvement in the molecular diagnosis of Machado-Joseph disease
P Maciel, M do Carmo Costa, A Ferro, M Rousseau, CS Santos, C Gaspar, ...
Archives of neurology 58 (11), 1821-1827, 2001
1592001
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study
C Gaspar, I Lopes-Cendes, S Hayes, J Goto, K Arvidsson, A Dias, ...
The American Journal of Human Genetics 68 (2), 523-528, 2001
1542001
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I Silveira, I Lopes-Cendes, S Kish, P Maciel, C Gaspar, P Coutinho, ...
Neurology 46 (1), 214-218, 1996
1401996
Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans : rescue by the DAF-16 and HSF-1 pathways
A Teixeira-Castro, M Ailion, A Jalles, HR Brignull, JL Vilaça, N Dias, ...
Human molecular genetics 20 (15), 2996-3009, 2011
1222011
Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans : rescue by the DAF-16 and HSF-1 pathways
A Teixeira-Castro, M Ailion, A Jalles, HR Brignull, JL Vilaça, N Dias, ...
Human molecular genetics 20 (15), 2996-3009, 2011
1222011
APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
RM Burwick, PP Ramsay, JL Haines, SL Hauser, JR Oksenberg, ...
Neurology 66 (9), 1373-1383, 2006
1122006
The genomic structure and expression of MJD, the Machado-Joseph disease gene
Y Ichikawa, J Goto, M Hattori, A Toyoda, K Ishii, SY Jeong, H Hashida, ...
Journal of human genetics 46 (7), 413-422, 2001
1102001
Inherited and acquired risk factors and their combined effects in pediatric stroke
S Barreirinho, A Ferro, M Santos, E lísio Costa, J Pinto-Basto, A Sousa, ...
Pediatric neurology 28 (2), 134-138, 2003
1042003
Machado–Joseph disease gene products carrying different carboxyl termini
J Goto, M Watanabe, Y Ichikawa, SB Yee, N Ihara, K Endo, S Igarashi, ...
Neuroscience research 28 (4), 373-377, 1997
981997
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
P Maciel, VT Cruz, M Constante, I Iniesta, MC Costa, S Gallati, N Sousa, ...
Neurology 65 (4), 603-605, 2005
972005
Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease
A Silva-Fernandes, S Duarte-Silva, A Neves-Carvalho, M Amorim, ...
Neurotherapeutics 11 (2), 433-449, 2014
922014
Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3
L Gales, L Cortes, C Almeida, CV Melo, M do Carmo Costa, P Maciel, ...
Journal of molecular biology 353 (3), 642-654, 2005
912005
Neurodevelopment milestone abnormalities in rats exposed to stress in early life
AR Mesquita, JM Pêgo, T Summavielle, P Maciel, OFX Almeida, N Sousa
Neuroscience 147 (4), 1022-1033, 2007
892007
Evidence for abnormal early development in a mouse model of Rett syndrome
M Santos, A Silva‐Fernandes, P Oliveira, N Sousa, P Maciel
Genes, Brain and Behavior 6 (3), 277-286, 2007
882007
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations
T Temudo, P Oliveira, M Santos, K Dias, J Vieira, A Moreira, E Calado, ...
Neurology 68 (15), 1183-1187, 2007
872007
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