Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Cerino, Mathieu, González-Hormazábal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Díaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortés, Rocío, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.
Published in Genes (16.06.2022)
Published in Genes (16.06.2022)
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CANVAS: una nueva etiología de la ataxia del adulto. La asociación con tos orienta al diagnóstico. Comunicación de 2 pacientes
Miranda C., Marcelo, Diaz, Mario, Hughes G., Ricardo, Barreto Y., Mariana, Nakousi C., Nicole, Campero S., Mario
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Published in Revista medíca de Chile (01.04.2023)
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TH-118. Clinical and electrophysiological characterization of patients with fibular neuropathy at the fibular head
Pablo Contreras, Juan, Campero, Mario, Bevilacqua, Jorge, Hughes, Ricardo, Acevedo, Lorena, Silva, Paula
Published in Clinical neurophysiology (01.09.2022)
Published in Clinical neurophysiology (01.09.2022)
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Incidence of amyotrophic lateral sclerosis in Chile
Lillo, Patricia, Zitko, Pedro, Godoy-Reyes, Gladys, Asenjo, Gabriela, Sáez, David, Cea, Gonzalo, Navarrete, Pamela, Valenzuela, Daniel, Hughes, Ricardo, Heverin, Mark, Logroscino, Giancarlo, Hardiman, Orla
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (20.03.2024)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (20.03.2024)
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Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern
Bevilacqua, Jorge A., Contreras, Juan Pablo, Trangulao, Alejandra, Hernández, Úrsula, Brochier, Guy, Díaz, Jorge, Hughes, Ricardo, Campero, Mario, Romero, Norma B.
Published in Neuromuscular disorders : NMD (01.08.2022)
Published in Neuromuscular disorders : NMD (01.08.2022)
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Spinal cord infarction with ipsilateral segmental neuropathic pain and flaccid paralysis. A functional role for human afferent ventral root small sensory fibres
Campero, Mario, Hughes, Ricardo, Orellana, Patricia, Bevilacqua, Jorge A., Guiloff, Roberto J.
Published in Journal of the neurological sciences (15.12.2018)
Published in Journal of the neurological sciences (15.12.2018)
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The ALS-FTD spectrum
Lillo, Patricia, Caramelli, Paulo, Musa, Gada, Parrao, Teresa, Hughes, Ricardo, Aragón, Andrés, Valenzuela, Daniel, Cea, Gabriel, Aránguiz, Rafael, Guimarães, Henrique Cerqueira, Rousseff, Laura, Gambogi, Leandro Boson, Mariano, Luciano Inácio, Teixeira, Antônio Lúcio, Slachevsky, Andrea, De Souza, Leonardo Cruz
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Inside minds, beneath diseases: social cognition in amyotrophic lateral sclerosis-frontotemporal spectrum disorder
Lillo, Patricia, Caramelli, Paulo, Musa, Gada, Parrao, Teresa, Hughes, Ricardo, Aragon, Andres, Valenzuela, Daniel, Cea, Gabriel, Aranguiz, Rafael, Guimarães, Henrique Cerqueira, Rousseff, Laura, Gambogi, Leandro Boson, Mariano, Luciano Inácio, Teixeira, Antônio Lúcio, Slachevsky, Andrea, de Souza, Leonardo Cruz
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2020)
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The Latin American Epidemiology Network for ALS (Laenals)
Hardiman, Orla, Heverin, Mark, Rooney, James, Lillo, Patricia, Godoy, Gladys, Sáez, David, Valenzuela, Daniel, Hughes, Ricardo, Perna, Abayuba, Ketzoian, Carlos N., Vazquez, Cristina, Gutierrez Gil, Joel, Arias Morales, Asdrúbal, Lara Fernandez, Gloria, Zaldivar, Tatiana, Horton, Kevin, Mehta, Paul, Logroscino, Giancarlo
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2022)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2022)
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Toward an objective measure of functional disability in dysferlinopathy
Woudt, Lisanne, Di Capua, Gabriella A., Krahn, Martin, Castiglioni, Claudia, Hughes, Ricardo, Campero, Mario, Trangulao, Alejandra, González-Hormazábal, Patricio, Godoy-Herrera, Raúl, Lévy, Nicolas, Urtizberea, Jon Andoni, Jara, Lilian, Bevilacqua, Jorge A.
Published in Muscle & nerve (01.01.2016)
Published in Muscle & nerve (01.01.2016)
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Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern
Bevilacqua, Jorge A, Contreras, Juan Pablo, Trangulao, Alejandra, Hernández, Úrsula, Brochier, Guy, Díaz, Jorge, Hughes, Ricardo, Campero, Mario, Romero, Norma B
Published in Neuromuscular disorders : NMD (01.08.2022)
Published in Neuromuscular disorders : NMD (01.08.2022)
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