Search Results - "Pedroso, José L"

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

“…Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and…”
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Polysomnography findings in spinocerebellar ataxia type 6 by Rueda, Adriana D., Pedroso, José L., Truksinas, Eveli, Do Prado, Gilmar F., Coelho, Fernando M., Barsottini, Orlando G.

“…Summary Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper,…”
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Sleep disorders in cerebellar ataxias by Pedroso, José L, Braga-Neto, Pedro, Felício, André C, Aquino, Camila C H, Prado, Lucila B Fernandes do, Prado, Gilmar Fernandes do, Barsottini, Orlando G P

“…Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of…”
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NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2 by Monte, Thais L., Reckziegel, Estela R., Augustin, Marina C., Silva, Amanda S. P., Locks-Coelho, Lucas D., Barsottini, Orlando, Pedroso, José L., Vargas, Fernando R., Saraiva-Pereira, Maria-Luiza, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach

“…Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2 , has a complex clinical picture. While validated ataxia scales are…”
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Reversible Acute Parkinsonism and Unusual Neuroimaging Findings in Systemic Lupus Erythematosus by Moraes de Moraes, Marianna P., Salomão, Rubens P.A., Felício, André C., Abrantes, Fabiano F., Barsottini, Orlando G.P., Pedroso, José L.

“…View Supplementary Video S1…”
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ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America by Pereira, Fernanda S., Monte, Thais L., Locks-Coelho, Lucas D., Silva, Amanda S. P., Barsottini, Orlando, Pedroso, José L., Cornejo-Olivas, Mario, Mazzetti, Pilar, Godeiro, Clecio, Vargas, Fernando R., Lima, Maria-Angélica F. D., van der Linden, Hélio, Toralles, Maria Betânia Pereira, Medeiros, Paula F. V., Ribeiro, Erlane, Braga-Neto, Pedro, Salarini, Diego, Castilhos, Raphael M., Saraiva-Pereira, Maria-Luiza, Jardim, Laura Bannach

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ASYMPTOMATIC RETINAL NERVE FIBER LAYER THICKENING IN A PATIENT WITH ATAXIA by Sallum, Juliana M. F., Filho, Flavio M. R., Pedroso, José L., Goldbaum, Mauro, Barsottini, Orlando G. P., Lima, Luiz H., Balaratnasingam, Chandrakumar, Pulido, Jose S., Cunha de Souza, Eduardo

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HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Pedroso, José L., Barsottini, Orlando G.P., Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio

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P3‐145: HEREDITARY SPASTIC PARAPLEGIA AND ALZHEIMER'S DISEASE: CLINICAL AND GENETIC STUDY OF A BRAZILIAN FAMILY by Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Pedroso, José L., Barsottini, Orlando G.P., Caltagirone, Carlo, Kawarai, Toshitaka, Orlacchio, Antonio

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Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors by 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

“…Abstract Background Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2 . SCA2 presents great clinical variability, alongside…”
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Arm Levitation as Initial Manifestation of Creutzfeldt-Jakob Disease: Case Report and Review of the Literature by Ciarlariello, Vinícius Boaratti, Barsottini, Orlando G P, Espay, Alberto J, Pedroso, José Luiz

“…BackgroundArm levitation is an involuntary elevation of the upper limb, a manifestation of the alien-limb phenomenon. It has rarely been reported in…”
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Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation by Pedroso, José Luiz, Vale, Thiago Cardoso, Barsottini, Orlando Graziani Povoas

“…No abstract necessary for Letters…”
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Late-Onset Psychogenic Chronic Phonic-Tics by Vale, Thiago Cardoso, Pedroso, José Luiz, Knobel, Marcos, Knobel, Elias

“…BACKGROUNDTics beginning in late adulthood often have an identifiable etiology. Psychogenic tics with onset around 60 years of age are rarely described in the…”
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Diffuse leptomeningeal enhancement in neurosarcoidosis-related longitudinally extensive myelitis by Abrantes, Fabiano Ferreira de, Moraes, Marianna Pinheiro Moraes de, Pedroso, José Luiz, Barsottini, Orlando G.

“…A 35-year-old man presented with bilateral lower limb weakness and numbness. Examination showed paraparesis, hyperreflexia, and T5 sensory level. MRI revealed…”
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Sepse durante a gestação: relato de caso Sepsis during pregnancy: case report by Renato Laks, José L. Pedroso, Juliana E. Marques Pinto, Aécio F. T. Gois

“…JUSTIFICATIVA E OBJETIVOS: A sepse durante a gestação é uma complicação rara. O comprometimento fetal resulta principalmente da descompensação materna, por…”
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Sepse durante a gestação: relato de caso by Laks, Renato, Pedroso, José L., Pinto, Juliana E. Marques, Gois, Aécio F. T.

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Sepsis during pregnancy: case report by Laks, Renato, Pedroso, José L, Pinto, Juliana E Marques, Gois, Aécio F T

“…Sepsis during pregnancy is a rare complication. This potentially fatal disease often occurs due to maternal infectious and can lead to fetal loss. Therefore,…”
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Reversible Acute Parkinsonism and Unusual Neuroimaging Findings in Systemic Lupus Erythematosus by Moraes de Moraes, Marianna P, Salomão, Rubens P A, Felício, André C, Abrantes, Fabiano F, Barsottini, Orlando G P, Pedroso, José L

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