Patricia Maciel

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74 artikel

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Jorge SequeirosICBAS; UnIGENe and CGPP, IBMC / i3S; Universidade do PortoEmail yang diverifikasi di ibmc.up.pt
Alda SousaICBAS, Universidade do PortoEmail yang diverifikasi di icbas.up.pt
Iscia Lopes-Cendes, M.D., Ph.D.University of Campinas - UNICAMP, Campinas, SP, BRAZILEmail yang diverifikasi di unicamp.br
Anabela Ferroi3S, IPATIMUP, Universidade do PortoEmail yang diverifikasi di ipatimup.pt
Anita DeStefanoBoston UniversityEmail yang diverifikasi di bu.edu
Teresa PinhoInstituto Superior de Ciências da Saúde-Norte, CESPU, Instituto de Investigacão e Formação AvançadaEmail yang diverifikasi di iscsn.cespu.pt
Sandra Macedo RibeiroBiomolecular Structure and Function Group, i3SEmail yang diverifikasi di ibmc.up.pt
Rafael MontielLANGEBIO, Unidad de Genómica Avanzada, Cinvestav-IPN, MexicoEmail yang diverifikasi di cinvestav.mx
Nadiya KazachkovaPostdoctoral researcher, University of the AzoresEmail yang diverifikasi di uac.pt
Ana Luisa CarvalhoAssociate Professor, University of CoimbraEmail yang diverifikasi di cnc.uc.pt
Michael AilionAssociate Professor of Biochemistry, University of WashingtonEmail yang diverifikasi di uw.edu
Laura Bannach JardimProfessora da Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, e Serviço deEmail yang diverifikasi di hcpa.edu.br
Richard I. MorimotoBill and Gayle Cook Professor of Biology, Dept of Molecular Biosciences, NorthwesternEmail yang diverifikasi di northwestern.edu
Pedro L. RodriguesPhD Student, University of Minho, Algoritmi and ICVS centersEmail yang diverifikasi di ecsaude.uminho.pt
João L. Vilaça2Ai (IPCA)Email yang diverifikasi di ipca.pt
Nuno Dias2AI, Polytechnic Institute of Cavado and AveEmail yang diverifikasi di ipca.pt
Dan GeschwindDistinguished Professor of Neurology, Psychiatry and Human Genetics, UCLAEmail yang diverifikasi di mednet.ucla.edu
Luis GalesEmail yang diverifikasi di ibmc.up.pt
Fernando RodriguesProfessor associado, Escola de Medicina, Instituto de investigação em Ciências da SaúdeEmail yang diverifikasi di med.uminho.pt
Agostinho CarvalhoLife and Health Sciences Research Institute (ICVS), University of Minho, Braga, PortugalEmail yang diverifikasi di med.uminho.pt

Ikuti

Patricia Maciel

University of Minho

Email yang diverifikasi di med.uminho.pt

Neurogenetics Molecular Neuropathology Drug discovery and development


Judul Urutkan menurut kutipan Urutkan menurut tahun Urutkan menurut judul	Dikutip oleh Dikutip oleh	Tahun
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	2054	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	416	1995
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	361	2022
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	247	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	220	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	207	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	204	2001
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	189	2001
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	150	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	146	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	138	1996
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	125	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	123	2014
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	122	1997
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	118	2006
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	114	2016
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	109	2007
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado‐Joseph disease protein ataxin‐3 AJ Rodrigues, G Coppola, C Santos, MC Costa, M Ailion, J Sequeiros, ... The FASEB Journal 21 (4), 1126-1136, 2007	108	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	108	2005
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	108	2003

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