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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
17272020
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
3971995
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
2322013
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
2072016
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
2002005
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
1992022
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
1882001
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
1772001
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
1412011
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
1411996
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
1302001
The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3’-phosphatase in spinocerebellar ataxia type 3 pathogenesis
A Chatterjee, S Saha, A Chakraborty, A Silva-Fernandes, SM Mandal, ...
PLoS genetics 11 (1), e1004749, 2015
1182015
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
1162014
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
1152006
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
1141997
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
F Torres, M Barbosa, P Maciel
Journal of medical genetics 53 (2), 73-90, 2016
1102016
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
1062003
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
1032007
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
1032005
Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3
R Gao, Y Liu, A Silva-Fernandes, X Fang, A Paulucci-Holthauzen, ...
PLoS genetics 11 (1), e1004834, 2015
1012015
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