Ricardo Jorge Ferreira Taipa
AuthID: R-000-FCG
71
TITLE: Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database
AUTHORS: Oliveira, J; Oliveira, ME; Kress, W; Taipa, R; Pires, MM ; Hilbert, P; Baxter, P; Santos, M; Buermans, H; den Dunnen, JT; Santos, R;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
AUTHORS: Oliveira, J; Oliveira, ME; Kress, W; Taipa, R; Pires, MM ; Hilbert, P; Baxter, P; Santos, M; Buermans, H; den Dunnen, JT; Santos, R;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
72
TITLE: Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Celine Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frederic Sedel; Christel Depienne; Agnes Camuzat; Veronique Golfier; Foucaud Du Boisgueheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 7
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Celine Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frederic Sedel; Christel Depienne; Agnes Camuzat; Veronique Golfier; Foucaud Du Boisgueheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 7
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Scopus WOS73
TITLE: Genetic Analysis of Inherited Leukodystrophies. Genotype-Phenotype Correlations in the CSF1R Gene
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Céline Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frédéric Sedel; Christel Depienne; Agnès Camuzat; Véronique Golfier; Foucaud Du Boisguéheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA Neurology - JAMA Neurol, VOLUME: 70, ISSUE: 7
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Céline Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frédéric Sedel; Christel Depienne; Agnès Camuzat; Véronique Golfier; Foucaud Du Boisguéheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA Neurology - JAMA Neurol, VOLUME: 70, ISSUE: 7
74
TITLE: Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report Full Text
AUTHORS: Filipa Flor-de-Lima ; Liliana Macedo; Ricardo Taipa; Manuel Melo-Pires; Maria Lurdes Rodrigues;
PUBLISHED: 2013, SOURCE: Case Reports in Pediatrics, VOLUME: 2013
AUTHORS: Filipa Flor-de-Lima ; Liliana Macedo; Ricardo Taipa; Manuel Melo-Pires; Maria Lurdes Rodrigues;
PUBLISHED: 2013, SOURCE: Case Reports in Pediatrics, VOLUME: 2013
75
TITLE: TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches
AUTHORS: Tiago Krug; Joao Paulo Gabriel; Ricardo Taipa; Benedita V Fonseca; Sophie Domingues Montanari; Israel Fernandez Cadenas; Helena Manso ; Liliana O Gouveia; Joao Sobral; Isabel Albergaria; Gisela Gaspar; Jordi Jimenez Conde; Raquel Rabionet; Jose M Ferro ; Joan Montaner; Astrid M Vicente ; Mario Rui Silva; Ilda Matos; Gabriela Lopes; Sofia A Oliveira ;
PUBLISHED: 2012, SOURCE: JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, VOLUME: 32, ISSUE: 6
AUTHORS: Tiago Krug; Joao Paulo Gabriel; Ricardo Taipa; Benedita V Fonseca; Sophie Domingues Montanari; Israel Fernandez Cadenas; Helena Manso ; Liliana O Gouveia; Joao Sobral; Isabel Albergaria; Gisela Gaspar; Jordi Jimenez Conde; Raquel Rabionet; Jose M Ferro ; Joan Montaner; Astrid M Vicente ; Mario Rui Silva; Ilda Matos; Gabriela Lopes; Sofia A Oliveira ;
PUBLISHED: 2012, SOURCE: JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, VOLUME: 32, ISSUE: 6
76
TITLE: Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met) Full Text
AUTHORS: Cecilia Monteiro; Marina Magalhaes; Carlos Correia; Ricardo Taipa;
PUBLISHED: 2012, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 19, ISSUE: 2
AUTHORS: Cecilia Monteiro; Marina Magalhaes; Carlos Correia; Ricardo Taipa;
PUBLISHED: 2012, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 19, ISSUE: 2
77
TITLE: Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL Full Text
AUTHORS: Cecilia Monteiro; Barros, José ; Ricardo Taipa; Jose Pereira Monteiro ;
PUBLISHED: 2012, SOURCE: CEPHALALGIA, VOLUME: 32, ISSUE: 3
AUTHORS: Cecilia Monteiro; Barros, José ; Ricardo Taipa; Jose Pereira Monteiro ;
PUBLISHED: 2012, SOURCE: CEPHALALGIA, VOLUME: 32, ISSUE: 3
78
TITLE: Clinical, Neuropathological, and Genetic Characteristics of the Novel IVS9+1delG GRN Mutation in a Patient with Frontotemporal Dementia
AUTHORS: Taipa, R; Tuna, A; Damasio, J; Pinto, PS; Cavaco, S ; Pereira, S; Milterberger Miltenyi, G; Galimberti, D; Melo Pires, M ;
PUBLISHED: 2012, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 30, ISSUE: 1
AUTHORS: Taipa, R; Tuna, A; Damasio, J; Pinto, PS; Cavaco, S ; Pereira, S; Milterberger Miltenyi, G; Galimberti, D; Melo Pires, M ;
PUBLISHED: 2012, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 30, ISSUE: 1
79
TITLE: Clinico-pathological correlations of the most common neurodegenerative dementias Full Text
AUTHORS: Taipa, R; Pinho, J; Melo Pires, M ;
PUBLISHED: 2012, SOURCE: Frontiers in Neurology, VOLUME: MAY
AUTHORS: Taipa, R; Pinho, J; Melo Pires, M ;
PUBLISHED: 2012, SOURCE: Frontiers in Neurology, VOLUME: MAY
80
TITLE: BETA-SARCOGLICANOPATIA- uma distrofia muscular das cinturas com diferentes prognósticos
AUTHORS: Andreia Dias; Ricardo Taipa; Melo Pires; Emília Vieira; Rosário Santos; Manuela Santos;
PUBLISHED: 2012, SOURCE: 13º Congresso Nacional de Pediatria, Sociedade Portuguesa de Pediatria, 11-13 Outubro 2012
AUTHORS: Andreia Dias; Ricardo Taipa; Melo Pires; Emília Vieira; Rosário Santos; Manuela Santos;
PUBLISHED: 2012, SOURCE: 13º Congresso Nacional de Pediatria, Sociedade Portuguesa de Pediatria, 11-13 Outubro 2012
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