Patrı́cia Maciel - Concepedia

Author

Patrı́cia Maciel

Also Known As

Bruno Costa, Fischer, Ute, M Santos, Maciel, P, Maciel, P., Maciel, Patricia, Maciel, Patrícia, Merete Nordentoft, P MACIEL, P Maciel

212

Publications

9.1K

Citations

H-Index

126

Concepts

All Affiliations

University of Minho Universidade do Porto Hospital de Santo António Hospital de Dona Estefânia Montreal General Hospital

About

Patrı́cia Maciel is an author at University of Minho specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	30	44	2.1K
2	Public Health	11	11	539
3	Social Sciences	6	6	265
4	Natural Sciences	3	3	98
5	Anatomy	2	2	153

Patrı́cia Maciel

103

Publications

5.3K

Citations

H-Index

Page 1

	Year	Citations
Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano, PubMed	1995	320
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Human Mutation GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics	2013	214
Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes Fátima Lopes, Mafalda Barbosa, Adam Ameur, Journal of Medical Genetics	2016	187
Improvement in the Molecular Diagnosis of Machado-Joseph Disease Patrı́cia Maciel Archives of Neurology	2001	139
Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study Cláudia Gaspar, Íscia Lopes‐Cendes, Sean M. Hayes, The American Journal of Human Genetics Ancestral OriginsGenetic DisorderGeneticsEvolutionary BiologyGenetic Variation	2001	134
Developmental absence of maxillary lateral incisors in the Portuguese population Teresa Pinho, Purificação Tavares, Patrı́cia Maciel, European Journal of Orthodontics Dental MorphologyGross AnatomyDevelopmental BiologyPediatricsMorphology	2005	116
Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans : rescue by the DAF-16 and HSF-1 pathways Andreia Teixeira‐Castro, Michael Ailion, Ana Jalles, Human Molecular Genetics	2011	109
Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease Anabela Silva‐Fernandes, Sara Duarte‐Silva, Andreia Neves‐Carvalho, Neurotherapeutics	2014	106
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients Isabel Silveira, Íscia Lopes‐Cendes, Stephen J. Kish, Neurology	1996	105
Identification of rare de novo epigenetic variations in congenital disorders Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Nature Communications	2018	99

Page 1