Maria Paula Mourao do Amaral Coutinho


AuthID: R-000-CFK

Confirmed Publications: 76



21
TITLE: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
AUTHORS: Sandra Martins ; Francesc Calafell; Claudia Gaspar; Virginia C N Wong; Isabel Silveira ; Garth A Nicholson; Ewout R Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing Wen Soong; Leal Loureiro; Alexandra Duerr; Shoji Tsuji; Mitsunori Watanabe; Laura B Jardim; Paola Giunti; Olaf Riess; Laura P W Ranum; Alexis Brice; Guy A Rouleau; Paula Coutinho ; Amorim, Antonio ; Jorge Sequeiros ; ...More
PUBLISHED: 2007, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 64, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 54
IN MY: ORCID
22
TITLE: Chapter 16 Overview on Hereditary Spastic Paraplegias
AUTHORS: Coutinho, P ; Loureiro, JL ;
PUBLISHED: 2007, SOURCE: Blue Books of Neurology, VOLUME: 31, ISSUE: C
INDEXED IN: Scopus CrossRef
IN MY: ORCID
23
TITLE: Chapter 19 Recessive Spastic Paraplegias
AUTHORS: Coutinho, P ; Loureiro, JL ;
PUBLISHED: 2007, SOURCE: Blue Books of Neurology, VOLUME: 31, ISSUE: C
INDEXED IN: Scopus CrossRef
IN MY: ORCID
24
TITLE: Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum  Full Text
AUTHORS: Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho ; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne Marie Ouvrard Hernandez; Alessandra Tessa; Naima Bouslam; Alexander Lossos; Perrine Charles; Jose L Loureiro ; Nizar Elleuch; Christian Confavreux; Vitor T Cruz ; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice; ...More
PUBLISHED: 2007, SOURCE: NATURE GENETICS, VOLUME: 39, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 260
IN MY: ORCID
25
TITLE: Cerebellar ataxia with spasmodic cough - A new form of dominant ataxia. A New Form of Dominant Ataxia
AUTHORS: Coutinho, P ; Cruz, VT ; Tuna, A; Silva, SE; Guimaraes, J;
PUBLISHED: 2006, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 63, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
26
TITLE: Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype  Full Text
AUTHORS: Maria do Carmo Costa; Andreia Teixeira Castro ; Marco Constante; Marina Magalhaes; Paula Magalhaes; Joana Cerqueira; Jose Vale; Vitorina Passao; Celia Barbosa; Conceicao Robalo; Paula Coutinho ; Barros, José ; Manuela M Santos; Jorge Sequeiros ; Patricia Maciel ;
PUBLISHED: 2006, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 51, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
27
TITLE: Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity  Full Text
AUTHORS: Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie O Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; Teresa T Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz ; Jos L Loureiro ; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho ; Alessandro Filla; Alexis Brice; Filippo M Santorelli; ...More
PUBLISHED: 2006, SOURCE: NEUROGENETICS, VOLUME: 7, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 35
IN MY: ORCID
28
TITLE: A novel H101Q mutation causes PKC gamma loss in spinocerebellar ataxia type 14  Full Text
AUTHORS: Alonso, I ; Costa, C; Gomes, A; Ferro, A; Seixas, AI; Silva, S; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2005, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 50, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID
29
TITLE: Erratum: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia (Human Molecular Genetics (2000) vol. 9 (637-644))
AUTHORS: Fonknechten, N; Mavel, D; Byrne, P; Davoine, CS; Cruaud, C; Bonsch, D; Samson, D; Coutinho, P ; Hutchinson, M; McMonagle, P; Burgunder, JM; Tartaglione, A; Heinzlef, O; Feki, I; Deufel, T; Parfey, N; Brice, A; Fontaine, B; Prud'homme, JF; Weissenbach, J; Durr, A; Hazan, J; ...More
PUBLISHED: 2005, SOURCE: Human Molecular Genetics, VOLUME: 14, ISSUE: 3
INDEXED IN: Scopus
30
TITLE: Haplotype diversity and somatic instability in normal and expanded SCA8 alleles  Full Text
AUTHORS: Martins, S ; Seixas, AI; Magalhaes, P; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2005, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 139B, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
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