Population-specific genetic modification of Huntington's disease in Venezuela
Chao, Michael J, Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C, Li, Hong, Roach, Jared C, Hood, Leroy, Wexler, Nancy S, Jardim, Laura B, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Published in PLoS genetics (11.05.2018)
Published in PLoS genetics (11.05.2018)
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CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
Leotti, Vanessa B., Vries, Jeroen J., Oliveira, Camila M., Mattos, Eduardo P., Te Meerman, Gerard J., Brunt, Ewout R., Kampinga, Harm H., Jardim, Laura B., Verbeek, Dineke S.
Published in Annals of neurology (01.01.2021)
Published in Annals of neurology (01.01.2021)
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Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers
Jardim, Laura B., Leotti, Vanessa B., Matte, Ursula, Vargas, Carmen R.
Published in European journal of neurology (01.08.2019)
Published in European journal of neurology (01.08.2019)
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Machado Joseph-Disease Is Rare in the Peruvian Population
Cornejo-Olivas, Mario, Solis-Ponce, Lesly, Araujo-Aliaga, Ismael, Milla-Neyra, Karina, Ortega, Olimpio, Illanes-Manrique, Maryenela, Mazzetti, Pilar, Manrique-Enciso, Carla, Cubas-Montecino, Diana, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sarapura-Castro, Elison
Published in Cerebellum (London, England) (01.12.2023)
Published in Cerebellum (London, England) (01.12.2023)
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Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
Gama, Maria Thereza D., Braga‐Neto, Pedro, Rangel, Deborah M., Godeiro, Clécio, Alencar, Rodrigo, Embiruçu, Emília K., Cornejo‐Olivas, Mario, Sarapura‐Castro, Elison, Saffie Awad, Paula, Muñoz Chesta, Daniela, Kauffman, Marcelo, Rodriguez‐Quiroga, Sergio, Jardim, Laura B., Graça, Felipe F., França, Marcondes C., Tomaselli, Pedro J., Marques, Wilson, Teive, Helio A.G., Barsottini, Orlando G.P., Pedroso, José Luiz, Synofzik, Matthis
Published in Movement disorders (01.08.2022)
Published in Movement disorders (01.08.2022)
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Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
Garces, Pilar, Antoniades, Chrystalina A., Sobanska, Anna, Kovacs, Norbert, Ying, Sarah H., Gupta, Anoopum S., Perlman, Susan, Szmulewicz, David J., Pane, Chiara, Németh, Andrea H., Jardim, Laura B., Coarelli, Giulia, Dankova, Michaela, Traschütz, Andreas, Tarnutzer, Alexander A.
Published in Cerebellum (London, England) (01.06.2024)
Published in Cerebellum (London, England) (01.06.2024)
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Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
Garces, Pilar, Antoniades, Chrystalina A., Sobanska, Anna, Kovacs, Norbert, Ying, Sarah H., Gupta, Anoopum S., Perlman, Susan, Szmulewicz, David J., Pane, Chiara, Németh, Andrea H., Jardim, Laura B., Coarelli, Giulia, Dankova, Michaela, Traschütz, Andreas, Tarnutzer, Alexander A.
Published in Cerebellum (London, England) (01.02.2024)
Published in Cerebellum (London, England) (01.02.2024)
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Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
Biancini, Giovana B., Vanzin, Camila S., Rodrigues, Daiane B., Deon, Marion, Ribas, Graziela S., Barschak, Alethéa G., Manfredini, Vanusa, Netto, Cristina B.O., Jardim, Laura B., Giugliani, Roberto, Vargas, Carmen R.
Published in Biochimica et biophysica acta (01.02.2012)
Published in Biochimica et biophysica acta (01.02.2012)
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Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch
Kuiper, E F E, de Mattos, Eduardo P, Jardim, Laura B, Kampinga, Harm H, Bergink, Steven
Published in Frontiers in neuroscience (23.03.2017)
Published in Frontiers in neuroscience (23.03.2017)
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ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
Véliz-Otani, Diego, Inca-Martinez, Miguel, Bampi, Giovana B., Ortega, Olimpio, Jardim, Laura B., Saraiva-Pereira, Maria Luiza, Mazzetti, Pilar, Cornejo-Olivas, Mario
Published in Cerebellum (London, England) (01.10.2019)
Published in Cerebellum (London, England) (01.10.2019)
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Huntington's disease-like disorders in Latin America and the Caribbean
Walker, Ruth H., Gatto, Emilia M., Bustamante, M. Leonor, Bernal-Pacheco, Oscar, Cardoso, Francisco, Castilhos, Raphael M., Chana-Cuevas, Pedro, Cornejo-Olivas, Mario, Estrada-Bellmann, Ingrid, Jardim, Laura B., López-Castellanos, Ricardo, López-Contreras, Ricardo, Maia, Debora P., Mazzetti, Pilar, Miranda, Marcelo, Rodríguez-Violante, Mayela, Teive, Helio, Tumas, Vitor
Published in Parkinsonism & related disorders (01.08.2018)
Published in Parkinsonism & related disorders (01.08.2018)
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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Charles, Perrine, Duyckaerts, Charles, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Goizet, Cyril, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, Marelli, Cecilia, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S, Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, Wood, Nicholas
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective
Klockgether, Thomas, Ashizawa, Tetsuo, Brais, Bernard, Chuang, Rosalind, Durr, Alexandra, Fogel, Brent, Greenfield, Julie, Hagen, Sue, Jardim, Laura Bannach, Jiang, Hong, Onodera, Osamu, Pedroso, José Luiz, Soong, Bin‐Weng, Szmulewicz, David, Graessner, Holm, Synofzik, Matthis
Published in Movement disorders (01.06.2022)
Published in Movement disorders (01.06.2022)
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Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V, Catoire, Hélène, Nicholson, Garth A, Riess, Olaf, Raposo, Mafalda, França, Marcondes C, Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B, Sequeiros, Jorge, Dion, Patrick A, Rouleau, Guy A
Published in Aging (Albany, NY.) (23.03.2020)
Published in Aging (Albany, NY.) (23.03.2020)
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Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and Rosuvastatin
Marchetti, Desirèe Padilha, Steffens, Luiza, Jacques, Carlos E., Guerreiro, Gilian B., Mescka, Caroline P., Deon, Marion, de Coelho, Daniella M., Moura, Dinara J., Viario, Alice G., Poletto, Fernanda, Coitinho, Adriana S., Jardim, Laura B., Vargas, Carmen R.
Published in Cellular and molecular neurobiology (01.11.2018)
Published in Cellular and molecular neurobiology (01.11.2018)
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Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation
Bampi, Giovana B., Bisso-Machado, Rafael, Hünemeier, Tábita, Gheno, Tailise C., Furtado, Gabriel V., Veliz-Otani, Diego, Cornejo-Olivas, Mario, Mazzeti, Pillar, Bortolini, Maria Cátira, Jardim, Laura B., Saraiva-Pereira, Maria Luiza
Published in Neuromolecular medicine (01.12.2017)
Published in Neuromolecular medicine (01.12.2017)
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Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors
Monte, Thais L, Pereira, Fernanda, da Rosa Reckziegel, Estela, Augustin, Marina Coutinho, Locks-Coelho, Lucas D, Santos, Amanda S.P, Pedroso, José L, Barsottini, Orlando, Vargas, Fernando R, Saraiva-Pereira, Maria-Luiza, Jardim, Laura B
Published in Parkinsonism & related disorders (01.09.2017)
Published in Parkinsonism & related disorders (01.09.2017)
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Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
Munoz‐Rojas, Maria‐Veronica, Vieira, Taiane, Costa, Ronaldo, Fagondes, Simone, John, Angela, Jardim, Laura Bannach, Vedolin, Leonardo M., Raymundo, Marcia, Dickson, Patricia I., Kakkis, Emil, Giugliani, Roberto
Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis
de Mattos, Eduardo Preusser, Kolbe Musskopf, Maiara, Bielefeldt Leotti, Vanessa, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2019)
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