Arm Levitation as Initial Manifestation of Creutzfeldt–Jakob Disease: Case Report and Review of the Literature

por Ciarlariello, Vinícius Boaratti, Barsottini, Orlando G. P., Espay, Alberto J., Pedroso, José Luiz
Publicado 2018

Diffuse leptomeningeal enhancement in neurosarcoidosis-related longitudinally extensive myelitis

por Abrantes, Fabiano Ferreira de, Moraes, Marianna Pinheiro Moraes de, Pedroso, José Luiz, Barsottini, Orlando G.
Publicado 2023

PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women

por Rezende Filho, Flávio M., Palma, Mariana M., Pedroso, José Luiz, Barsottini, Orlando G., Sallum, Juliana M.
Publicado 2021

A Real-World Study of Cerebral 99mTc-TRODAT-1 Single-Photon Emission Computed Tomography (SPECT) Imaging of the Dopamine Transporter in Patients with Parkinson Disease from a Terti...

por Arjona, Michelly, Toldo, Juliana M.P., Queiroz, Natalia Carvalho, Pedroso, Jose Luiz, de Carvalho Campos Neto, Guilherme, Barsottini, Orlando G.P., Felicio, Andre C.
Publicado 2020

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

por Pedroso, José Luiz, Rocha, Clarissa R.R., Macedo-Souza, Lucia I., De Mario, Vitor, Marques, Wilson, Barsottini, Orlando G.P., Bulle Oliveira, Acary S., Menck, Carlos F.M., Kok, Fernando
Publicado 2015

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

por Beaudin, Marie, Matilla-Dueñas, Antoni, Soong, Bing-Weng, Pedroso, Jose Luiz, Barsottini, Orlando G., Mitoma, Hiroshi, Tsuji, Shoji, Schmahmann, Jeremy D., Manto, Mario, Rouleau, Guy A, Klein, Christopher, Dupre, Nicolas
Publicado 2019

Movement disorders in hereditary spastic paraplegias

por Pedroso, Jose Luiz, Vale, Thiago Cardoso, Freitas, Julian Letícia de, Araújo, Filipe Miranda Milagres, Meira, Alex Tiburtino, Neto, Pedro Braga, França, Marcondes C., Tumas, Vitor, Teive, Hélio A. G., Barsottini, Orlando G. P.
Publicado 2023

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

por Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G., Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A., Rouleau, Guy A.
Publicado 2019

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

por Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Publicado 2016

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

por Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ‘‘Kling’’, Mills, Philippa B.
Publicado 2016