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TITLE: A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature  Full Text
AUTHORS: Pinheiro, Rita Goncalo; Rato, Miguel Leal; Silva, Claudia Santos; Soares, Marta P.; Carvalho, Vanessa; Guedes, Leonor Correia;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 118
INDEXED IN: Scopus WOS
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TITLE: Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers  Full Text
AUTHORS: Sugier, Pierre Emmanuel; Lucotte, Elise A.; Domenighetti, Cloe; Law, Matthew H.; Iles, Mark M.; Brown, Kevin; Amos, Christopher; McKay, James D.; Hung, Rayjean J.; Karimi, Mojgan; Bacq Daian, Delphine; Boland Auge, Anne; Olaso, Robert; Deleuze, Jean francois; Lesueur, Fabienne; Ostroumova, Evgenia; Kesminiene, Ausrele; de Vathaire, Florent; Guenel, Pascal; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; May, Patrick; Bobbili, Dheeraj R.; Radivojkov Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B.; Hernandez, Dena G.; Edsall, Connor; Mellick, George D.; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E.; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean Christophe; Chartier Harlin, Marie Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschlaender, Angela B.; Hadjigeorgiou, Georges M.; Dardiotis, Efthimios; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart P. C.; Bloem, Bastiaan R.; Aasly, Jan; Toft, Mathias; Pihlstrom, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J.; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy; Ran, Caroline; Belin, Andrea C.; Puschmann, Andreas; Roedstroem, Emil Ygland; Clarke, Carl E.; Morrison, Karen E.; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F.; Farrer, Matt J.; Kruger, Rejko; Gasser, Thomas; Sharma, Manu; Truong, Therese; Elbaz, Alexis; ...More
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS, VOLUME: 38, ISSUE: 4
INDEXED IN: WOS
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TITLE: When the SAINT goes marching in - A novel transcranial magnetic stimulation protocol shows miraculous promise  Full Text
AUTHORS: Vieira de Andrade, J. D.; Brito, M. J.;
PUBLISHED: 2023, SOURCE: EUROPEAN PSYCHIATRY, VOLUME: 66
INDEXED IN: WOS
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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
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TITLE: PRKN analysis in Parkinson disease: two decades experience
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Antonio Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Manuela Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
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TITLE: PARKINSON DISEASE: EXPERIENCE OF TWO DECADES IN THE ANALYSIS OF PRKN GENE  Full Text
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease Evidence From the COURAGE-PD Consortium
AUTHORS: Grover, Sandeep; Kumar Sreelatha, Ashwin Ashok; Pihlstrom, Lasse; Domenighetti, Cloe; Schulte, Claudia; Sugier, Pierre Emmanuel; Radivojkov Blagojevic, Milena; Lichtner, Peter; Mohamed, Oceane; Portugal, Berta; Landoulsi, Zied; May, Patrick; Bobbili, Dheeraj; Edsall, Connor; Bartusch, Felix; Hanussek, Maximilian; Krueger, Jens; Hernandez, Dena G.; Blauwendraat, Cornelis; Mellick, George D.; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean Christophe; Chartier Harlin, Marie Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschlaender, Angela B.; Hadjigeorgiou, Georges M.; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F.; Matsuo, Hirotaka; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; van de Warrenburg, Bart P. C.; Bloem, Bastiaan R.; Singleton, Andrew B.; Aasly, Jan; Toft, Mathias; Guedes, Leonor Correia; Ferreira, Joaquim J.; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L.; Ran, Caroline; Belin, Andrea C.; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E.; Morrison, Karen E.; Krainc, Dimitri; Farrer, Matt J.; Kruger, Rejko; Elbaz, Alexis; Gasser, Thomas; Sharma, Manu; ...More
PUBLISHED: 2022, SOURCE: NEUROLOGY, VOLUME: 99, ISSUE: 7
INDEXED IN: Scopus WOS
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TITLE: Virtual simulations of ancient sites inhabited by autonomous characters: Lessons from the development of Easy-population
AUTHORS: Antunes, RF; Correia, L;
PUBLISHED: 2022, SOURCE: Digital Applications in Archaeology and Cultural Heritage, VOLUME: 26
INDEXED IN: Scopus
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TITLE: Tremor and Parkinsonism in Chromosomopathies - A Systematic Review  Full Text
AUTHORS: Carvalho, V; Ferreira, JJ; Guedes, LC;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS
INDEXED IN: Scopus WOS
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TITLE: MAGNETIC RESONANCE IMAGING VISUAL ANALYSIS OF NEUROMELANIN AND NIGROSOME-1 FOR THE ASSESSMENT OF STRIATONIGRAL DISFUNCTION IN HUNTINGTON'S DISEASE
AUTHORS: Guerreiro, Carla; Guedes, Leonor Correia; Rosario, Madalena; Galati, Giulia; Berhanu, David; Simoes, Rita Moiron; Ferreira, Joaquim J.; Reimao, Sofia;
PUBLISHED: 2021, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 92
INDEXED IN: WOS
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