Citations (35)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (3)
Rebecca Amery, Julie Gungungbuy Wunungmurra, Gurimaŋu Bukuḻatjpi, Rachel Dikul Baker, Farrah Gumbula, Elah Yunupingu, Parimala Raghavendra, Ruth Barker, Deborah Theodoros, Howard Amery, Libby Massey & Anne Lowell. (2022) Designing augmentative and alternative communication systems with Aboriginal Australians: vocabulary representation, layout, and access. Augmentative and Alternative Communication 38:4, pages 221-235.
Read now
Read now
Rebecca Amery, Julie Gungungbuy Wunungmurra, Parimala Raghavendra, Gurimaŋu Bukuḻatjpi, Rachel Dikul Baker, Farrah Gumbula, Ruth Barker, Deborah Theodoros, Howard Amery, Libby Massey & Anne Lowell. (2022) Augmentative and alternative communication for Aboriginal Australians: Developing core vocabulary for Yolŋu speakers. Augmentative and Alternative Communication 38:4, pages 209-220.
Read now
Read now
Anna Zeitlberger, Heather Ging, Suran Nethisinghe & Paola Giunti. (2018) Advances in the understanding of hereditary ataxia – implications for future patients. Expert Opinion on Orphan Drugs 6:3, pages 203-217.
Read now
Read now
Articles from other publishers (32)
Lucas Schenatto Sena, Renan Barbosa Lemes, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira & Laura Bannach Jardim. (2023) A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes. Frontiers in Genetics 14.
Crossref
Crossref
Robin Cabeza-Ruiz, Luis Velázquez-Pérez, Roberto Pérez-Rodríguez & Kathrin Reetz. (2022) ConvNets for automatic detection of polyglutamine SCAs from brain MRIs: state of the art applications. Medical & Biological Engineering & Computing 61:1, pages 1-24.
Crossref
Crossref
Camila Maria de Oliveira, Vanessa Bielefeldt Leotti, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Gabriela Ecco, Gabriela Bolzan, Nathalia Kersting, Maria‐Luiza Saraiva‐Pereira & Laura Bannach Jardim. (2022)
Progression of Clinical and Eye Movement Markers in Preataxic Carriers of
Machado‐Joseph
Disease
. Movement Disorders 38:1, pages 26-34.
Crossref
Crossref
Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim & Elison Sarapura-Castro. (2022) Machado Joseph-Disease Is Rare in the Peruvian Population. The Cerebellum 22:6, pages 1192-1199.
Crossref
Crossref
Guoxu Song, Yuying Ma, Xing Gao, Xuewen Zhang, Fei Zhang, Chunhong Tian, Jiajia Hou, Zheng Liu, Zixin Zhao & Yong Tian. (2022) CRISPR/Cas9-mediated genetic correction reverses spinocerebellar ataxia 3 disease-associated phenotypes in differentiated cerebellar neurons. Life Medicine 1:1, pages 27-44.
Crossref
Crossref
Desireé LaGrappe, Libby Massey, Anuk Kruavit, Timothy Howarth, Gayangwa Lalara, Bronwyn Daniels, Julie Gungunbuy Wunungmurra, Kimberley Flavell, Ruth Barker, Howard Flavell & Subash S. Heraganahally. (2022) Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers. Neurobiology of Sleep and Circadian Rhythms 12, pages 100075.
Crossref
Crossref
Jordânia dos Santos Pinheiro, Lucas Schenatto Sena, Karina Carvalho Donis, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira & Laura Bannach Jardim. (2022) Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease. The Cerebellum 22:3, pages 348-354.
Crossref
Crossref
Gabriela Bolzan, Vanessa Bielefeldt Leotti, Camila Maria de Oliveira, Gabriela Ecco, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Nathalia Kersting, Mariana Rieck, Lucas Schenatto de Sena, Ana Carolina Martins, Maria-Luiza Saraiva-Pereira & Laura Bannach Jardim. (2021) Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease. The Cerebellum 21:2, pages 297-305.
Crossref
Crossref
Ana Jalles, Cármen Vieira, Joana Pereira-Sousa, Daniela Vilasboas-Campos, Ana Francisca Mota, Sara Vasconcelos, Bruna Ferreira-Lomba, Marta Daniela Costa, Jorge Diogo Da Silva, Patrícia Maciel & Andreia Teixeira-Castro. (2022) Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans. Biomedicines 10:2, pages 370.
Crossref
Crossref
Kathrin Gonsior, Gabriele Anna Kaucher, Patrik Pelz, Dorothea Schumann, Melanie Gansel, Sandra Kuhs, Thomas Klockgether, Sylvie Forlani, Alexandra Durr, Stefan Hauser, Tim W. Rattay, Matthis Synofzik, Holger Hengel, Ludger Schöls, Olaf H. Rieß & Jeannette Hübener-Schmid. (2020) PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study. Journal of Neurology 268:4, pages 1304-1315.
Crossref
Crossref
Camila Maria de Oliveira, Vanessa Bielefeldt Leotti, Gabriela Bolzan, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Gabriela Ecco, Nathalia Kersting, Mariana Rieck, Ana Carolina Martins, Lucas Schenatto Sena, Maria‐Luiza Saraiva‐Pereira & Laura Bannach Jardim. (2021)
Pre‐ataxic Changes of Clinical Scales and Eye Movement in
Machado–Joseph
Disease:
BIGPRO
Study
. Movement Disorders 36:4, pages 985-994.
Crossref
Crossref
Lucas Schenatto Sena, Jordânia Santos Pinheiro, Maria Luiza Saraiva‐Pereira & Laura Bannach Jardim. (2020)
Selective forces acting on spinocerebellar ataxia type 3/
Machado–Joseph
disease recurrency: A systematic review and meta‐analysis
. Clinical Genetics 99:3, pages 347-358.
Crossref
Crossref
Vanessa B. Leotti, Jeroen J. Vries, Camila M. Oliveira, Eduardo P. Mattos, Gerard J. Te Meerman, Ewout R. Brunt, Harm H. Kampinga, Laura B. Jardim & Dineke S. Verbeek. (2020)
CAG
Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
. Annals of Neurology 89:1, pages 66-73.
Crossref
Crossref
Roberto Rodríguez-Labrada, Ana Carolina Martins, Jonathan J. Magaña, Yaimeé Vazquez-Mojena, Jacqueline Medrano-Montero, Juan Fernandez-Ruíz, Bulmaro Cisneros, Helio Teive, Karen N. McFarland, Maria Luiza Saraiva-Pereira, César M. Cerecedo-Zapata, Christopher M. Gomez, Tetsuo Ashizawa, Luis Velázquez-Pérez & Laura Bannach Jardim. (2020) Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. The Cerebellum 19:3, pages 446-458.
Crossref
Crossref
Rafaella Mergener, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, Vanessa Bielefeldt Leotti, Laura Bannach Jardim & Maria Luiza Saraiva-Pereira. (2019) Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease. NeuroMolecular Medicine 22:1, pages 133-138.
Crossref
Crossref
Craig S. McIntosh, May Thandar Aung-Htut, Sue Fletcher & Steve D. Wilton. (2019) Removal of the Polyglutamine Repeat of Ataxin-3 by Redirecting pre-mRNA Processing. International Journal of Molecular Sciences 20:21, pages 5434.
Crossref
Crossref
Jennifer J Carr, Joyce Lalara, Gayangwa Lalara, Moira Smith, Jennifer Quaill, Alan R Clough, Anne Lowell & Ruth N Barker. (2019) What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia. BMJ Open 9:9, pages e032092.
Crossref
Crossref
Zijian Wang, Fengqin He, Mahkameh Abeditashi & Thorsten Schmidt. (2019) Divalproex sodium regulates ataxin-3 translocation likely by an importin α1-dependent pathway. NeuroReport 30:11, pages 760-764.
Crossref
Crossref
Ronald A.M. Buijsen, Lodewijk J.A. Toonen, Sarah L. Gardiner & Willeke M.C. van Roon-Mom. (2019) Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Neurotherapeutics 16:2, pages 263-286.
Crossref
Crossref
Zijian Wang. (2019) Disulfiram facilitates ataxin-3 nuclear translocation and potentiates the cytotoxicity in a cell model of SCA3. The Journal of Toxicological Sciences 44:8, pages 535-542.
Crossref
Crossref
Gabriel Vasata Furtado, Camila Maria de Oliveira, Gabriela Bolzan, Jonas Alex Morales Saute, Maria Luiza Saraiva-Pereira & Laura Bannach Jardim. (2019) State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change. Genetics and Molecular Biology 42:1 suppl 1, pages 238-251.
Crossref
Crossref
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini & Francyne Kubaski. (2019) Population medical genetics: translating science to the community. Genetics and Molecular Biology 42:1 suppl 1, pages 312-320.
Crossref
Crossref
Anna Sergeevna Sowa, Elodie MartinInês Morgado MartinsJana SchmidtReinhard DeppingJonasz Jeremiasz WeberFranziska RotherEnno HartmannMichael Bader, Olaf RiessHervé TricoireThorsten Schmidt. (2018) Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3. Proceedings of the National Academy of Sciences 115:11.
Crossref
Crossref
Waleska de Araújo Aureliano. (2018) Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração. Ciência & Saúde Coletiva 23:2, pages 369-380.
Crossref
Crossref
Zijian Wang. (2018) Experimental and Clinical Strategies for Treating Spinocerebellar Ataxia Type 3. Neuroscience 371, pages 138-154.
Crossref
Crossref
Sara Duarte-Silva & Patrícia Maciel. 2018. Polyglutamine Disorders. Polyglutamine Disorders
369
394
.
Jonas Alex Morales Saute & Laura Bannach Jardim. 2018. Polyglutamine Disorders. Polyglutamine Disorders
321
348
.
Adriano M. de Assis, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Suzi Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim & Luis Valmor Portela. (2017) Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease. Frontiers in Neurology 8.
Crossref
Crossref
Gabriele Nunes Souza, Nathália Kersting, Thomaz Abramsson Gonçalves, Daphne Louise Oliveira Pacheco, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Jonas Alex Morales Saute & Laura Bannach Jardim. (2017) Cancer in Machado–Joseph disease patients—low frequency as a cause of death. Cancer Genetics 212-213, pages 19-23.
Crossref
Crossref
G.N. Souza, N. Kersting, A.C. Krum-Santos, A.S.P. Santos, G.V. Furtado, D. Pacheco, T.A. Gon?alves, J.A. Saute, L. Schuler-Faccini, E.P. Mattos, M.L. Saraiva-Pereira & L.B. Jardim. (2016) Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions. Clinical Genetics 90:2, pages 134-140.
Crossref
Crossref
Karina Carvalho Donis, Jonas Alex Morales Saute, Ana Carolina Krum-Santos, Gabriel Vasata Furtado, Eduardo Preusser Mattos, Maria Luiza Saraiva-Pereira, Vanessa Leotti Torman & Laura Bannach Jardim. (2016) Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence. neurogenetics 17:2, pages 107-113.
Crossref
Crossref
Jonas Alex Morales Saute, Carlos R.M. Rieder, Raphael Machado Castilhos, Thais Lampert Monte, Artur Francisco Schumacher-Schuh, Karina Carvalho Donis, Rui D'?vila, Gabriele Nunes Souza, Aline Dutra Russo, Gabriel Vasata Furtado, Tailise Conte Gheno, Diogo Onofre Gomes Souza, Maria Luiza Saraiva-Pereira, Luis Valmor Cruz Portela, Suzi Camey, Vanessa Bielefeld Leotti Torman & Laura Bannach Jardim. (2015) Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial. Journal of the Neurological Sciences 358:1-2, pages 72-76.
Crossref
Crossref