Search Results - "Jardim, L.B."

Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions by Socal, M.P, Emmel, V.E, Rieder, C.R.M, Hilbig, A, Saraiva-Pereira, M.L, Jardim, L.B

“…Abstract Background Parkinson's disease (PD) has been related to mutations associated with spinocerebellar ataxias (SCA); the frequency of the diagnosis of…”
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Spg4 mutations in Brazilian patients with hereditary spastic paraplegia by D'Abreu, A, Dogini, D.B, Teive, H.A.G, Saute, J.A.M, Jardim, L.B, Lopes-Cendes, I

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Severity score system for progressive myelopathy: development and validation of a new clinical scale by Castilhos, R M, Blank, D, Netto, C B O, Souza, C F M, Fernandes, L N T, Schwartz, I V D, Giugliani, R, Jardim, L B

“…Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The…”
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Occupational therapy in spinocerebellar ataxia type 3: an open-label trial by Silva, R C R, Saute, J A M, Silva, A C F, Coutinho, A C O, Saraiva-Pereira, M L, Jardim, L B

“…Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in…”
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Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3 by Siebert, M, Donis, K.C, Socal, M, Rieder, C.R.M, Emmel, V.E, Vairo, F, Michelin-Tirelli, K, França, M, D’Abreu, A.C, Bettencourt, C, Lima, M, Lopes Cendes, I, Saraiva-Pereira, M.L, Jardim, L.B

“…Abstract Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3) may rarely presents a parkinsonian phenotype. Considering that mutations in the…”
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Genomic analysis of Brazilian patients with Fabry disease by Pereira, F S, Jardim, L B, Netto, C B, Burin, M G, Cecchin, C, Giugliani, R, Matte, U S

“…Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this…”
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MR Imaging in Spinocerebellar Ataxias: A Systematic Review by Klaes, A, Reckziegel, E, Franca, Jr, M C, Rezende, T J R, Vedolin, L M, Jardim, L B, Saute, J A

“…Polyglutamine expansion spinocerebellar ataxias are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment. MR imaging is…”
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Research Article Morphological and molecular parameters for the characterization of accessions of pepper with ornamental potential by Pimenta, S., Gome, W.S., Rodrigues, B.R.A, Jardim, L.B, Vale, A.M.P.B do, de Souza, S.A., Monteiro, H.C.F., Bento, C.S., Santos, I.N.R.

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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions by Souza, G.N., Kersting, N., Krum-Santos, A.C., Santos, A.S.P., Furtado, G.V., Pacheco, D., Gonçalves, T.A., Saute, J.A., Schuler-Faccini, L., Mattos, E.P., Saraiva-Pereira, M.L., Jardim, L.B.

“…Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado–Joseph disease…”
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Genetic aspects of Huntington's disease in Latin America. A systematic review by Castilhos, R.M., Augustin, M.C., Santos, J.A., Perandones, C., Saraiva-Pereira, M.L., Jardim, L.B.

“…We aimed to present a systematic review on Huntington's disease (HD) in Latin America (LA). PubMed and LILACS were searched up to March 2015, reporting…”
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Huntington disease and Huntington disease-like in a case series from Brazil by Castilhos, R.M., Souza, A.F.D., Furtado, G.V., Gheno, T.C., Silva, A.L., Vargas, F.R., Lima, M.-A.F.D., Barsottini, O., Pedroso, J.L., Godeiro Jr, C., Salarini, D., Pereira, E.T., Lin, K., Toralles, M.-B., Saute, J.A.M., Rieder, C.R., Quintas, M., Sequeiros, J., Alonso, I., Saraiva-Pereira, M.L., Jardim, L.B.

“…The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD‐like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2…”
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Severity score system for progressive myelopathy: development and validation of a new clinical scale by R.M. Castilhos, D. Blank, C.B.O. Netto, C.F.M. Souza, L.N.T. Fernandes, I.V.D. Schwartz, R. Giugliani, L.B. Jardim

“…Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The…”
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SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil by França Jr, M.C., Dogini, D.B., D'Abreu, A., Teive, H.A.G., Munhoz, R.P., Raskin, S., Moro, A., Melo, C.C., Gomes, A.P., Saute, J.A.M., Jardim, L.B., Lopes-Cendes, I.

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Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives by Cecchin, C R, Pires, A P, Rieder, C R, Monte, T L, Silveira, I, Carvalho, T, Saraiva-Pereira, M L, Sequeiros, J, Jardim, L B

“…It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD,…”
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Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family by Valadares, E R, Trindade, A L C, Oliveira, L R, Arantes, R R, Daker, M V, Viana, B M, Haase, V G, Jardim, L B, Lopes, G C, Godard, A L B

“…Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an…”
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2-13-05 Krabbe's disease—Report of an adult case with molecular studies by Jardim, L.B., Pires, R.F., Haussen, S., Burin, M.G., Giugliani, R., Rafi, M.A., Wenger, D.A.

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1-17-13 Inborn errors of metabolism among children with seizure disorders by Pires, R.F., Forcelini, C.M., Jardim, L.B., Weiss, A., Silva, R.C.F., Vargas, C.R., Wajner, M., Schwartz, I.V.D., Nogueira, A.H.H.

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