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
AUTHORS: Reis Carneiro, Diogo; Robalo, Conceicao; Laco, Mario; Vidailhet, Marie; Diogo, Luisa;
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel Full Text
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
INDEXED IN: Scopus WOS
Scopus WOS4
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
INDEXED IN: Scopus WOS
Scopus WOS5
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
WOS6
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
WOS7
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
8
TITLE: Activation of IGF-1 and Insulin Signaling Pathways Ameliorate Mitochondrial Function and Energy Metabolism in Huntington's Disease Human Lymphoblasts Full Text
AUTHORS: Luana Naia; Luisa Ferreira, IL; Teresa Cunha-Oliveira ; Ana I Duarte; Marcio Ribeiro; Tatiana R Rosenstock; Mario N Laco; Maria J Ribeiro; Catarina R Oliveira; Frederic Saudou; Sandrine Humbert; Cristina Rego, AC;
PUBLISHED: 2015, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 51, ISSUE: 1
AUTHORS: Luana Naia; Luisa Ferreira, IL; Teresa Cunha-Oliveira ; Ana I Duarte; Marcio Ribeiro; Tatiana R Rosenstock; Mario N Laco; Maria J Ribeiro; Catarina R Oliveira; Frederic Saudou; Sandrine Humbert; Cristina Rego, AC;
PUBLISHED: 2015, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 51, ISSUE: 1
9
TITLE: Compromised mitochondrial complex II in models of Machado–Joseph disease Full Text
AUTHORS: Mário N Laço; Catarina R Oliveira; Henry L Paulson; Cristina C Rego;
PUBLISHED: 2012, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1822, ISSUE: 2
AUTHORS: Mário N Laço; Catarina R Oliveira; Henry L Paulson; Cristina C Rego;
PUBLISHED: 2012, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1822, ISSUE: 2
10
TITLE: Valosin-Containing Protein (VCP/p97) Is an Activator of Wild-Type Ataxin-3 Full Text
AUTHORS: Mário N Laço; Luisa Cortes; Sue M Travis; Henry L Paulson; Cristina C Rego;
PUBLISHED: 2012, SOURCE: PLoS ONE, VOLUME: 7, ISSUE: 9
AUTHORS: Mário N Laço; Luisa Cortes; Sue M Travis; Henry L Paulson; Cristina C Rego;
PUBLISHED: 2012, SOURCE: PLoS ONE, VOLUME: 7, ISSUE: 9
