Joana Catarina Damásio Correia dos Santos
AuthID: R-002-PWH
21
TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
22
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
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
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TITLE: Central Pain in Parkinson's Disease: Behavioral and Cognitive Characteristics Full Text
AUTHORS: Vila Cha, N; Cavaco, S; Mendes, A ; Goncalves, A; Moreira, I; Fernandes, J; Damasio, J; Azevedo, LF ; Castro Lopes, JM ;
PUBLISHED: 2021, SOURCE: PARKINSONS DISEASE, VOLUME: 2021
AUTHORS: Vila Cha, N; Cavaco, S; Mendes, A ; Goncalves, A; Moreira, I; Fernandes, J; Damasio, J; Azevedo, LF ; Castro Lopes, JM ;
PUBLISHED: 2021, SOURCE: PARKINSONS DISEASE, VOLUME: 2021
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TITLE: Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
AUTHORS: Hoshino, K; Sweadner, KJ; Kawarai, T; Saute, JA; Freitas, J; Damasio, J; Donis, KC; Kimura, K; Fukuda, H; Hayashi, M; Higuchi, T; Ikeda, Y; Ozelius, LJ; Kaji, R;
PUBLISHED: 2021, SOURCE: NEUROLOGY-GENETICS, VOLUME: 7, ISSUE: 2
AUTHORS: Hoshino, K; Sweadner, KJ; Kawarai, T; Saute, JA; Freitas, J; Damasio, J; Donis, KC; Kimura, K; Fukuda, H; Hayashi, M; Higuchi, T; Ikeda, Y; Ozelius, LJ; Kaji, R;
PUBLISHED: 2021, SOURCE: NEUROLOGY-GENETICS, VOLUME: 7, ISSUE: 2
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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
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
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TITLE: Brain Calcifications in Complex Sexual Aneuploidy
AUTHORS: Oliveira, V; Rocha, JP; Candeias, C; Oliva Teles, N; Damasio, J;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 8, ISSUE: 8
AUTHORS: Oliveira, V; Rocha, JP; Candeias, C; Oliva Teles, N; Damasio, J;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 8, ISSUE: 8
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TITLE: Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
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TITLE: A Case of YY1‐Related Isolated Dystonia with Severe Oromandibular Involvement
AUTHORS: Maria João Malaquias; Joana Damásio; Alexandre Mendes; João Parente Freixo; Marina Magalhães;
PUBLISHED: 2021, SOURCE: Movement Disorders, VOLUME: 36, ISSUE: 11
AUTHORS: Maria João Malaquias; Joana Damásio; Alexandre Mendes; João Parente Freixo; Marina Magalhães;
PUBLISHED: 2021, SOURCE: Movement Disorders, VOLUME: 36, ISSUE: 11
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TITLE: Past appendectomy may be related to early cognitive dysfunction in Parkinson’s disease
AUTHORS: Gonçalves, AR; Mendes, A; Vila Chã, N; Damásio, J; Fernandes, J; Cavaco, SM;
PUBLISHED: 2020, SOURCE: Neurological Sciences, VOLUME: 42, ISSUE: 1
AUTHORS: Gonçalves, AR; Mendes, A; Vila Chã, N; Damásio, J; Fernandes, J; Cavaco, SM;
PUBLISHED: 2020, SOURCE: Neurological Sciences, VOLUME: 42, ISSUE: 1
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TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (November, 10.1007/s10072-020-04895-4, 2020) Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2