Mário Luís Nôro Laço
AuthID: R-000-CY8
1
TITLE: RING CHROMOSOME 20 SYNDROME: TWO CASES REPORT WITH REFRACTORY FRONTAL LOBE SEIZURES AND LEARNING DISABILITIES Full Text
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Serrano, Margarida; Laco, Mario N.; Bento, Conceicao; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Serrano, Margarida; Laco, Mario N.; Bento, Conceicao; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria
AUTHORS: Reis Carneiro, Diogo; Robalo, Conceicao; Laco, Mario; Vidailhet, Marie; Diogo, Luisa;
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 9, ISSUE: 5
AUTHORS: Reis Carneiro, Diogo; Robalo, Conceicao; Laco, Mario; Vidailhet, Marie; Diogo, Luisa;
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 9, ISSUE: 5
3
TITLE: Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
AUTHORS: Bauer, Christiane K.; Holling, Tess; Horn, Denise; Laco, Mario Noro; Abdalla, Ebtesam; Omar, Omneya Magdy; Alawi, Malik; Kutsche, Kerstin;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
AUTHORS: Bauer, Christiane K.; Holling, Tess; Horn, Denise; Laco, Mario Noro; Abdalla, Ebtesam; Omar, Omneya Magdy; Alawi, Malik; Kutsche, Kerstin;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
4
TITLE: Mitochondrial and redox modifications in early stages of Huntington's disease
AUTHORS: Lopes, Carla; Ferreira, I. Luisa; Maranga, Carina; Beatriz, Margarida; Mota, Sandra I.; Sereno, Jose; Castelhano, Joao; Abrunhosa, Antero; Oliveira, Francisco; De Rosa, Maura; Hayden, Michael; Laco, Mario N.; Januario, Cristina; Branco, Miguel Castelo; Rego, A. Cristina;
PUBLISHED: 2022, SOURCE: REDOX BIOLOGY, VOLUME: 56
AUTHORS: Lopes, Carla; Ferreira, I. Luisa; Maranga, Carina; Beatriz, Margarida; Mota, Sandra I.; Sereno, Jose; Castelhano, Joao; Abrunhosa, Antero; Oliveira, Francisco; De Rosa, Maura; Hayden, Michael; Laco, Mario N.; Januario, Cristina; Branco, Miguel Castelo; Rego, A. Cristina;
PUBLISHED: 2022, SOURCE: REDOX BIOLOGY, VOLUME: 56
5
TITLE: A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement
AUTHORS: Ramos Lopes, J; Ribeiro, J; Laco, M; Alves, C; Matos, A; Costa, C;
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRIC GENETICS, VOLUME: 10, ISSUE: 03
AUTHORS: Ramos Lopes, J; Ribeiro, J; Laco, M; Alves, C; Matos, A; Costa, C;
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRIC GENETICS, VOLUME: 10, ISSUE: 03
6
TITLE: Congenital myopathies: going back to the old microscope in the age of futuristic gene panels Full Text
AUTHORS: Mario Laco; Sara Ribeiro; Fatima Negrao; Olinda Rebelo; Jorge Oliveira; Joaquim Sa; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Mario Laco; Sara Ribeiro; Fatima Negrao; Olinda Rebelo; Jorge Oliveira; Joaquim Sa; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS7
TITLE: A new mutation in RPL10 associated with X-linked syndromic intellectual disability in two families and literature review Full Text
AUTHORS: Mario Laco; Margarida Venancio; Lauren Grote; Mike Friez; Estelle Chanudet; Chiara Bachelli; Hywel Williams; Sergio Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Mario Laco; Margarida Venancio; Lauren Grote; Mike Friez; Estelle Chanudet; Chiara Bachelli; Hywel Williams; Sergio Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS8
TITLE: A whole brain longitudinal study in the YAC128 mouse model of Huntington's disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes
AUTHORS: Lorena I Petrella; João M Castelhano; Mario Ribeiro; José V Sereno; Sónia I Gonçalves; Mário N Laço; Michael R Hayden; Cristina Rego A.; Miguel Castelo Branco;
PUBLISHED: 2018, SOURCE: Human Molecular Genetics, VOLUME: 27, ISSUE: 12
AUTHORS: Lorena I Petrella; João M Castelhano; Mario Ribeiro; José V Sereno; Sónia I Gonçalves; Mário N Laço; Michael R Hayden; Cristina Rego A.; Miguel Castelo Branco;
PUBLISHED: 2018, SOURCE: Human Molecular Genetics, VOLUME: 27, ISSUE: 12
9
TITLE: Expanded and Wild-type Ataxin-3 Modify the Redox Status of SH-SY5Y Cells Overexpressing alpha-Synuclein Full Text
AUTHORS: Noronha, C; Perfeito, R; Laco, M; Wullner, U; Rego, AC;
PUBLISHED: 2017, SOURCE: NEUROCHEMICAL RESEARCH, VOLUME: 42, ISSUE: 5
AUTHORS: Noronha, C; Perfeito, R; Laco, M; Wullner, U; Rego, AC;
PUBLISHED: 2017, SOURCE: NEUROCHEMICAL RESEARCH, VOLUME: 42, ISSUE: 5
10
TITLE: Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington’s Disease Models Full Text
AUTHORS: Naia, L; Rosenstock, TR; Oliveira, AM; Oliveira Sousa, SI; Caldeira, GL; Carmo, C; Laço, MN; Hayden, MR; Oliveira, CR; Rego, AC;
PUBLISHED: 2016, SOURCE: Molecular Neurobiology
AUTHORS: Naia, L; Rosenstock, TR; Oliveira, AM; Oliveira Sousa, SI; Caldeira, GL; Carmo, C; Laço, MN; Hayden, MR; Oliveira, CR; Rego, AC;
PUBLISHED: 2016, SOURCE: Molecular Neurobiology
