Maria Paula Mourao do Amaral Coutinho


AuthID: R-000-CFK

Confirmed Publications: 76



11
TITLE: Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal  Full Text
AUTHORS: Vale, J; Bugalho, P; Silveira, I ; Sequeiros, J ; Guimaraes, J; Coutinho, P ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
12
TITLE: Common Origin of Pure and Interrupted Repeat Expansions in Spinocerebellar Ataxia Type 2 (SCA2)  Full Text
AUTHORS: Eliana Marisa Ramos; Sandra Martins ; Isabel Alonso ; Vanessa E Emmel; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Paula Coutinho ; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 153B, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 28
IN MY: ORCID
13
TITLE: Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients  Full Text
AUTHORS: Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C ; Salih, M; Delaunoy, JP; Fritsch, M; Arning, L; Synofzik, M; Schoels, L; Sequeiros, J ; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; Ali Pacha, L; Benhassine, T; Chbicheb, M; M'Zahem, A; Hamri, A; Chabrol, B; Pouget, J; Murphy, R; Watanabe, M; Coutinho, P ; Tazir, M; Durr, A; Brice, A; Tranchant, C; Koenig, M; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
14
TITLE: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5  Full Text
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
15
TITLE: Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families  Full Text
AUTHORS: Loureiro, JL ; Miller Fleming, L; Thieleke Matos, C; Magalhaes, P; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2009, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 119, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
16
TITLE: SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
AUTHORS: Goizet, C; Boukhris, A; Maltete, D; Guyant Marechal, L; Truchetto, J; Mundwiller, E; Hanein, S; Jonveaux, P; Roelens, F; Loureiro, J ; Godet, E; Forlani, S; Melki, J; Auer Grumbach, M; Fernandez, JC; Martin Hardy, P; Sibon, I; Sole, G; Orignac, I; Mhiri, C; Coutinho, P ; Durr, A; Brice, A; Stevanin, G; ...More
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 73, ISSUE: 14
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
17
TITLE: Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease  Full Text
AUTHORS: Sandra Martins ; Paula Coutinho ; Isabel Silveira ; Paola Giunti; Laura B Jardim; Francesc Calafell; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 147B, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
18
TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 180
IN MY: ORCID
19
TITLE: Pathological crying in patients with Machado-Joseph disease  Full Text
AUTHORS: Joao Guimaraes; Paulo Bugalho; Paula Coutinho ;
PUBLISHED: 2008, SOURCE: MOVEMENT DISORDERS, VOLUME: 23, ISSUE: 3
INDEXED IN: Scopus WOS
20
TITLE: A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
AUTHORS: Stevanin, G; Paternotte, C; Coutinho, P ; Klebe, S; Elleuch, N; Loureiro, JL ; Denis, E; Cruz, VT ; Durr, A; Prud'homme, JF; Weissenbach, J; Brice, A; Hazan, J;
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 21
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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