Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial von 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

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Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach von 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

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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions von 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.

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Genetic aspects of Huntington's disease in Latin America. A systematic review von Castilhos, R.M., Augustin, M.C., Santos, J.A., Perandones, C., Saraiva-Pereira, M.L., Jardim, L.B.

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Huntington disease and Huntington disease-like in a case series from Brazil von 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.

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

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SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil von 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? von Emmel, VE, Alonso, I, Jardim, LB, Saraiva-Pereira, ML, Sequeiros, J

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Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease von 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.

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Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings von 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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A survey of spinocerebellar ataxia in South Brazil : 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations von JARDIM, Laura Bannach, SILVEIRA, Isabel, PEREIRA, Maria Luiza, FERRO, Anabela, ALONSO, Isabel, DO CEU MOREIRA, Maria, MENDONCA, Pedro, FERREIRINHA, Fatima, SEQUEIROS, Jorge, GIUGLIANI, Roberto

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

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S100B and NSE serum concentrations in Machado Joseph disease von 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.

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Impaired P50 sensory gating in Machado-Joseph disease von 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.

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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing von Raposo, M, Bettencourt, C, Melo, ARV, Ferreira, AF, Alonso, I, Silva, P, Vasconcelos, J, Kay, T, Saraiva-Pereira, ML, Costa, MD, Vilasboas-Campos, D, Bettencourt, BF, Bruges-Armas, J, Houlden, H, Heutink, P, Jardim, LB, Sequeiros, J, Maciel, P, Lima, M

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Huntington disease: DNA analysis in Brazilian population von 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

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Pyridoxine-Dependent Seizures Associated with White Matter Abnormalities von Jardim, Laura B., Pires, R. F., Martins, C. E. S., Vargas, C. R., Vizioli, J., Kliemann, F. A. D., Giugliani, R.

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Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria von Silva, L C. S., Pires, R. F., Coelho, J. C., Jardim, L B., Giugliani, R.

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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 von 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

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Clinical and molecular studies in five Brazilian cases of Friedreich ataxia von Schwartz, I V, Jardim, L B, Puga, A C, Cocozza, S, Leistner, S, Lima, L C

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