Joana Catarina Damásio Correia dos Santos
AuthID: R-002-PWH
21
TITLE: Multisystemic
RFC1
-Related Disorder. Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
AUTHORS: Maria João Malaquias; Luis Braz; Cláudia Santos Silva; Joana Damásio; André Jorge; João M Lemos; Catarina F Campos; Daniela Garcez; Miguel Oliveira Santos; Ana G Velon; André Caetano; Margarida Calejo; Preza Fernandes; Ângela Rego; Sandra Castro; Ana P Sousa; Marcio Neves Cardoso; Marco Fernandes; Miguel M Pinto; Ricardo Taipa; ...More
PUBLISHED: 2023, SOURCE: Neurology Clinical Practice, VOLUME: 13, ISSUE: 5
AUTHORS: Maria João Malaquias; Luis Braz; Cláudia Santos Silva; Joana Damásio; André Jorge; João M Lemos; Catarina F Campos; Daniela Garcez; Miguel Oliveira Santos; Ana G Velon; André Caetano; Margarida Calejo; Preza Fernandes; Ângela Rego; Sandra Castro; Ana P Sousa; Marcio Neves Cardoso; Marco Fernandes; Miguel M Pinto; Ricardo Taipa; ...More
PUBLISHED: 2023, SOURCE: Neurology Clinical Practice, VOLUME: 13, ISSUE: 5
22
TITLE: Hybrid Deep Brain Stimulation for Parkinson’s Disease and Dystonia Improves Side Effects, Maintaining Clinical Benefit
AUTHORS: Diogo Costa; Margarida Calejo; Nuno Vila-Chã; Joana Damásio; Carla Silva; Eduardo Procaci da Cunha; Luís Botelho; António Verdelho; Alexandre Mendes;
PUBLISHED: 2023, SOURCE: Sinapse, VOLUME: 23, ISSUE: 2
AUTHORS: Diogo Costa; Margarida Calejo; Nuno Vila-Chã; Joana Damásio; Carla Silva; Eduardo Procaci da Cunha; Luís Botelho; António Verdelho; Alexandre Mendes;
PUBLISHED: 2023, SOURCE: Sinapse, VOLUME: 23, ISSUE: 2
23
TITLE: Anti-NMDAr Encephalitis and COVID-19 in a Patient With Systemic pANCA-Vasculitis and Recurrent Varicella Zoster Infection
AUTHORS: Moura, J; Duarte, S; Sardoeira, A; Neves Maia, J; Damasio, J; Taipa, R; Carneiro, P; Neves, E; Campar, A; Santos, E;
PUBLISHED: 2022, SOURCE: NEUROHOSPITALIST, VOLUME: 12, ISSUE: 2
AUTHORS: Moura, J; Duarte, S; Sardoeira, A; Neves Maia, J; Damasio, J; Taipa, R; Carneiro, P; Neves, E; Campar, A; Santos, E;
PUBLISHED: 2022, SOURCE: NEUROHOSPITALIST, VOLUME: 12, ISSUE: 2
24
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
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
25
TITLE: Augmin-dependent microtubule self-organization drives kinetochore fiber maturation in mammals
AUTHORS: Almeida, Ana C.; Soares de Oliveira, Joana; Drpic, Danica; Cheeseman, Liam P.; Damas, Joana; Lewin, Harris A.; Larkin, Denis M.; Aguiar, Paulo ; Pereira, Antonio J.; Maiato, Helder ;
PUBLISHED: 2022, SOURCE: CELL REPORTS, VOLUME: 39, ISSUE: 1
AUTHORS: Almeida, Ana C.; Soares de Oliveira, Joana; Drpic, Danica; Cheeseman, Liam P.; Damas, Joana; Lewin, Harris A.; Larkin, Denis M.; Aguiar, Paulo ; Pereira, Antonio J.; Maiato, Helder ;
PUBLISHED: 2022, SOURCE: CELL REPORTS, VOLUME: 39, ISSUE: 1
26
TITLE: Genetic analysis of Portuguese patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: 
WOS
WOS27
TITLE: Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS28
TITLE: Clinical and genetic characterization of seven Portuguese patients with KMT2B variants
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS29
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
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
30
TITLE: EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS Full Text
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS