O
Orlando Graziani Povoas Barsottini
Researcher at Federal University of São Paulo
Publications - 317
Citations - 3725
Orlando Graziani Povoas Barsottini is an academic researcher from Federal University of São Paulo. The author has contributed to research in topics: Ataxia & Spinocerebellar ataxia. The author has an hindex of 26, co-authored 290 publications receiving 2880 citations. Previous affiliations of Orlando Graziani Povoas Barsottini include University of North Carolina at Chapel Hill & Universidade Federal de Juiz de Fora.
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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
Karin Tuschl,Peter E. Clayton,Sidney M. Gospe,Shamshad Gulab,Shahnaz Ibrahim,Pratibha Singhi,Roosy Aulakh,Reinaldo Teixeira Ribeiro,Orlando Graziani Povoas Barsottini,Maha S. Zaki,Maria Luz Del Rosario,Sarah Dyack,Victoria Price,Andrea L. Rideout,Kevin E. Gordon,Ron A. Wevers,W.K. “Kling” Chong,Philippa B. Mills +17 more
TL;DR: It is confirmed that SLC30A10 functions as a Mn transporter in humans that, when defective, causes Mn accumulation in liver and brain and an important step toward understanding Mn transport and its role in neurodegenerative processes.
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Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
Raphael Machado de Castilhos,Gabriel Vasata Furtado,Tailise Conte Gheno,Paola da Silva Schaeffer,Aline Dutra Russo,Orlando Graziani Povoas Barsottini,José Luiz Pedroso,Diego Salarini,Fernando Regla Vargas,Fernando Regla Vargas,Maria A.F.D. De Lima,Clecio Godeiro,Luiz Carlos Santana-da-Silva,Maria Betânia Pereira Toralles,Silvana Santos,Helio van der Linden,Héctor Yuri Conti Wanderley,Paula Frassineti Vanconcelos de Medeiros,Eliana Ternes Pereira,Erlane Marques Ribeiro,Maria Luiza Saraiva-Pereira,Laura Bannach Jardim +21 more
TL;DR: A portrait of SCAs in Brazil was obtained, where variation in frequencies seemed to parallel ethnic differences, and new potential interactions between some SCA-related genes were presented.
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Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
José Luiz Pedroso,Marcondes C. França,Pedro Braga-Neto,Anelyssa D'Abreu,Maria Luiza Saraiva-Pereira,Maria Luiza Saraiva-Pereira,Jonas Alex Morales Saute,Hélio A.G. Teive,Paulo Caramelli,Laura Bannach Jardim,Iscia Lopes-Cendes,Orlando Graziani Povoas Barsottini +11 more
TL;DR: Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado‐Joseph disease.
Journal ArticleDOI
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
Marie Beaudin,Antoni Matilla-Dueñas,Bing Weng Soong,José Luiz Pedroso,Orlando Graziani Povoas Barsottini,Hiroshi Mitoma,Shoji Tsuji,Jeremy D. Schmahmann,Mario Manto,Guy A. Rouleau,Christopher J. Klein,Nicolas Dupré +11 more
TL;DR: A consensus is built on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders.
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ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Celeste Montecchiani,Lucia Pedace,Temistocle Lo Giudice,Antonella Casella,Marzia Mearini,F. Gaudiello,José Luiz Pedroso,Chiara Terracciano,Carlo Caltagirone,Roberto Massa,Peter St George-Hyslop,Peter St George-Hyslop,Orlando Graziani Povoas Barsottini,Toshitaka Kawarai,Antonio Orlacchio +14 more
TL;DR: It is shown that KIAA1840 mutations can manifest also as recessive Charcot-Marie-Tooth disease and 12 kindreds with 15 different mutations are described, two of which have not been reported previously.