Patricia Maciel

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Jorge SequeirosICBAS; UnIGENe and CGPP, IBMC / i3S; Universidade do PortoGeverifieerd e-mailadres voor ibmc.up.pt
Alda SousaICBAS, Universidade do PortoGeverifieerd e-mailadres voor icbas.up.pt
Iscia Lopes-Cendes, M.D., Ph.D.University of Campinas - UNICAMP, Campinas, SP, BRAZILGeverifieerd e-mailadres voor unicamp.br
Anabela Ferroi3S, IPATIMUP, Universidade do PortoGeverifieerd e-mailadres voor ipatimup.pt
Anita DeStefanoBoston UniversityGeverifieerd e-mailadres voor bu.edu
Teresa PinhoInstituto Superior de Ciências da Saúde-Norte, CESPU, Instituto de Investigacão e Formação AvançadaGeverifieerd e-mailadres voor iscsn.cespu.pt
Sandra Macedo RibeiroBiomolecular Structure and Function Group, i3SGeverifieerd e-mailadres voor ibmc.up.pt
Rafael MontielLANGEBIO, Unidad de Genómica Avanzada, Cinvestav-IPN, MexicoGeverifieerd e-mailadres voor cinvestav.mx
Nadiya KazachkovaPostdoctoral researcher, University of the AzoresGeverifieerd e-mailadres voor uac.pt
Ana Luisa CarvalhoAssociate Professor, University of CoimbraGeverifieerd e-mailadres voor cnc.uc.pt
Michael AilionAssociate Professor of Biochemistry, University of WashingtonGeverifieerd e-mailadres voor uw.edu
Laura Bannach JardimProfessora da Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, e Serviço deGeverifieerd e-mailadres voor hcpa.edu.br
Richard I. MorimotoBill and Gayle Cook Professor of Biology, Dept of Molecular Biosciences, NorthwesternGeverifieerd e-mailadres voor northwestern.edu
Cristina CostaGeverifieerd e-mailadres voor idibell.cat
Pedro L. RodriguesPhD Student, University of Minho, Algoritmi and ICVS centersGeverifieerd e-mailadres voor ecsaude.uminho.pt
João L. Vilaça2Ai (IPCA)Geverifieerd e-mailadres voor ipca.pt
Nuno Dias2AI, Polytechnic Institute of Cavado and AveGeverifieerd e-mailadres voor ipca.pt
Dan GeschwindDistinguished Professor of Neurology, Psychiatry and Human Genetics, UCLAGeverifieerd e-mailadres voor mednet.ucla.edu
Fernando RodriguesProfessor associado, Escola de Medicina, Instituto de investigação em Ciências da SaúdeGeverifieerd e-mailadres voor med.uminho.pt
Agostinho CarvalhoLife and Health Sciences Research Institute (ICVS), University of Minho, Braga, PortugalGeverifieerd e-mailadres voor med.uminho.pt

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Patricia Maciel

University of Minho

Geverifieerd e-mailadres voor med.uminho.pt

Neurogenetics Molecular Neuropathology Drug discovery and development


Titel Sorteren op citaties Sorteren op jaar Sorteren op titel	Geciteerd door Geciteerd door	Jaar
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	1684	2020
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	396	1995
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	227	2013
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	203	2016
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	199	2005
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	186	2001
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	183	2022
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	177	2001
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	141	1996
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	140	2011
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	140	2011
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	130	2001
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	117	2015
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	115	2014
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	115	2006
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	114	1997
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	109	2016
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	106	2003
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	103	2007
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	103	2005

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