Search Results - "Jardim, LB"

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial by Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca

“…Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by…”
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Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach by Burguez, Daniela, Polese-Bonatto, Márcia, Scudeiro, Laís Alves Jacinto, Björkhem, Ingemar, Schöls, Ludger, Jardim, Laura Bannach, Matte, Ursula, Saraiva-Pereira, Maria Luiza, Siebert, Marina, Saute, Jonas Alex Morales

“…Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize…”
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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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Survival estimates for patients with Machado-Joseph disease (SCA3) by Kieling, C, Prestes, PR, Saraiva-Pereira, ML, Jardim, LB

“…Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood,…”
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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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Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? by Emmel, VE, Alonso, I, Jardim, LB, Saraiva-Pereira, ML, Sequeiros, J

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Short Report: Survival estimates for patients with Machado-Joseph disease (SCA3) by Kieling, C, Prestes, PR, Saraiva-Pereira, ML, Jardim, LB

“…Kieling C, Prestes PR, Saraiva-Pereira ML, Jardim LB. Survival estimates for patients with Machado-Joseph disease (SCA3). Clin Genet 2007: 72: 543-545. ©…”
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A survey of spinocerebellar ataxia in South Brazil : 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations by JARDIM, Laura Bannach, SILVEIRA, Isabel, PEREIRA, Maria Luiza, FERRO, Anabela, ALONSO, Isabel, DO CEU MOREIRA, Maria, MENDONCA, Pedro, FERREIRINHA, Fatima, SEQUEIROS, Jorge, GIUGLIANI, Roberto

“…The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related…”
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Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings by Trott, A, Jardim, LB, Ludwig, HT, Saute, JAM, Artigalás, O, Kieling, C, Wanderley, HYC, Rieder, CRM, Monte, TL, Socal, M, Alonso, I, Ferro, A, Carvalho, T, Do Céu Moreira, M, Mendonça, P, Ferreirinha, F, Silveira, I, Sequeiros, J, Giugliani, R, Saraiva-Pereira, ML

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Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease by Jardim, L. B., Gomes, I., Netto, C. B. O., Nora, D. B., Matte, U. S., Pereira, F., Burin, M. G., Kalakun, L., Giugliani, R., Becker, J.

“…Summary Aim To report the effect of enzyme replacement therapy (ERT) in sympathetic skin responses (SSR) of patients with Fabry disease. Patients and methods…”
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S100B and NSE serum concentrations in Machado Joseph disease by Tort, Adriano B.L., Portela, Luis V.C., Rockenbach, Isabel C., Monte, Thais L., Pereira, Maria L., Souza, Diogo O., Rieder, Carlos R.M., Jardim, Laura B.

“…NSE and S100B are considered as neuronal and glial peripheral markers of central nervous system pathologies, respectively. We evaluated the potential use of…”
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Impaired P50 sensory gating in Machado-Joseph disease by Ghisolfi, Eduardo S., Maegawa, Gustavo H.B., Becker, Jefferson, Paula Zanardo, Ana, Strimitzer, Ivo M., Prokopiuk, Alexandre S., Luiza Pereira, Maria, Carvalho, Thiago, Jardim, Laura B., Lara, Diogo R.

“…Objective: Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration caused by an expanded CAG repeat on chromosome 14q32.1, is a…”
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Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds by Jardim, L. B., Pereira, M. L., Silveira, I., Ferro, A., Sequeiros, J., Giugliani, R.

“…Objective– To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil,…”
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Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study by Monte, T. L., Rieder, C. R. M., Tort, A. B., Rockenback, I., Pereira, M. L., Silveira, I., Ferro, A., Sequeiros, J., Jardim, L. B.

“…Context – Machado‐Joseph Disease (MJD/SCA3) is an autosomal dominant spinocerebellar degeneration that evolves to disability and death. Experimental data have…”
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Huntington disease: DNA analysis in Brazilian population by Raskin, S, Allan, N, Teive, H A, Cardoso, F, Haddad, M S, Levi, G, Boy, R, Lerena Junior, J, Sotomaior, V S, Janzen-Dück, M, Jardim, L B, Fellander, F R, Andrade, L A

“…Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in…”
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Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation by Jardim, L B, Palma-Dias, R, Silva, L C, Ashton-Prolla, P, Giugliani, R

“…We attempted to evaluate the role of maternal hyperphenylalaninaemia (HPA) as an isolated cause of mental retardation and microcephaly in children. This…”
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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients by Lopes-Cendes, I, Teive, H G, Calcagnotto, M E, Da Costa, J C, Cardoso, F, Viana, E, Maciel, J A, Radvany, J, Arruda, W O, Trevisol-Bittencourt, P C, Rosa Neto, P, Silveira, I, Steiner, C E, Pinto Júnior, W, Santos, A S, Correa Neto, Y, Werneck, L C, Araújo, A Q, Carakushansky, G, Mello, L R, Jardim, L B, Rouleau, G A

“…Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three…”
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Pyridoxine-dependent seizures associated with white matter abnormalities by Jardim, L B, Pires, R F, Martins, C E, Vargas, C R, Vizioli, J, Kliemann, F A, Giugliani, R

“…Pyridoxine-dependent seizures are a disorder of GABA metabolism probably due to a defective binding of pyridoxal phosphate coenzyme (PALP) with glutamate…”
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