Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
1
TITLE: Pearls & Oy-sters: Adult-Onset Coats Plus. A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
AUTHORS: Catarina Serrão; Romana Rodrigues; Carla Leão Guerreiro; Jorge Oliveira; João Parente Freixo; Ana Patrícia Antunes; Rui Barreto;
PUBLISHED: 2025, SOURCE: Neurology, VOLUME: 105, ISSUE: 7
AUTHORS: Catarina Serrão; Romana Rodrigues; Carla Leão Guerreiro; Jorge Oliveira; João Parente Freixo; Ana Patrícia Antunes; Rui Barreto;
PUBLISHED: 2025, SOURCE: Neurology, VOLUME: 105, ISSUE: 7
2
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
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
3
TITLE: Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal
AUTHORS: Quelhas, Patricia; Jacinto, Joana; Cerski, Carlos; Oliveira, Rui; Oliveira, Jorge; Carvalho, Elisa; dos Santos, Jorge;
PUBLISHED: 2022, SOURCE: HEALTHCARE, VOLUME: 10, ISSUE: 10
AUTHORS: Quelhas, Patricia; Jacinto, Joana; Cerski, Carlos; Oliveira, Rui; Oliveira, Jorge; Carvalho, Elisa; dos Santos, Jorge;
PUBLISHED: 2022, SOURCE: HEALTHCARE, VOLUME: 10, ISSUE: 10
4
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
5
TITLE: Ryanodine Myopathies Without Central Cores-Clinical, Histopathologic, and Genetic Description of Three Cases Full Text
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
6
TITLE: New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy Full Text
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
7
TITLE: Gathering and managing genotype and phenotype information about rare diseases patients
AUTHORS: Mendonca, R; Lopes, P ; Rocha, H; Oliveira, J; Vilarinho, L; Santos, R; Oliveira, JL ;
PUBLISHED: 2012, SOURCE: HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics in HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics
AUTHORS: Mendonca, R; Lopes, P ; Rocha, H; Oliveira, J; Vilarinho, L; Santos, R; Oliveira, JL ;
PUBLISHED: 2012, SOURCE: HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics in HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics
INDEXED IN: 
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TITLE: Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific database
AUTHORS: Jorge Oliveira; Márcia E Oliveira; Roel Brekelmans; Manuel Melo Pires; António Guimarães; Johan den Dunnen; Manuela Santos; Rosário Santos;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World Muscle Society, 18-22 Outubro 2011
AUTHORS: Jorge Oliveira; Márcia E Oliveira; Roel Brekelmans; Manuel Melo Pires; António Guimarães; Johan den Dunnen; Manuela Santos; Rosário Santos;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World Muscle Society, 18-22 Outubro 2011
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