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TITLE: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST  Full Text
AUTHORS: Damásio, J; Barbot, C; Felgueiras, R; Brandão, AF; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2023, SOURCE: Movement disorders : official journal of the Movement Disorder Society, VOLUME: 38, ISSUE: 5
INDEXED IN: Scopus CrossRef
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TITLE: In Memoriam: Paula Coutinho (1941-2022), a pioneer in Neurogenetics  Full Text
AUTHORS: Sequeiros, Jorge ; Loureiro, Jose Leal; Barros, José ;
PUBLISHED: 2023, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 453
INDEXED IN: Scopus WOS CrossRef
3
TITLE: Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
AUTHORS: Malaquias, Maria Joao; Oliveira, Jorge; Santos, Manuela; Brandao, Ana Filipa; Sardoeira, Ana; Sequeiros, Jorge; Barros, José ; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
4
TITLE: Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia  Full Text
AUTHORS: Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, José ; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 6
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TITLE: Blindness and Deafness – an Extreme Phenotype in Friedreich Ataxia
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021
INDEXED IN: CrossRef
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TITLE: Congenital ataxia due to novel variant in ATP8A2  Full Text
AUTHORS: Damásio, J; Santos, D; Morais, S; Brás, J; Guerreiro, R; Sardoeira, A; Cavaco, S; Carrilho, I; Barbot, C; Barros, José ; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 1
INDEXED IN: Scopus CrossRef: 3
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TITLE: Das Doenças Humanas por Priões à COVID-19: 20 Anos de Sinapse
AUTHORS: Barros, José ;
PUBLISHED: 2021, SOURCE: Sinapse, VOLUME: 21, ISSUE: 1
INDEXED IN: CrossRef
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TITLE: José Pereira Monteiro, the President
AUTHORS: Barros, José ;
PUBLISHED: 2021, SOURCE: Sinapse, VOLUME: 21, ISSUE: 1
INDEXED IN: CrossRef
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TITLE: Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype  Full Text
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
INDEXED IN: Scopus CrossRef: 2
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