Laura Bannach Jardim
Laura Bannach Jardim
Professora da Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, e Serviço de
Email confirmado em hcpa.edu.br - Página inicial
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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
BA Minassian, JR Lee, JA Herbrick, J Huizenga, S Soder, AJ Mungall, ...
Nature genetics 20 (2), 171-174, 1998
5071998
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
A Di Fonzo, HF Chien, M Socal, S Giraudo, C Tassorelli, G Iliceto, ...
Neurology 68 (19), 1557-1562, 2007
3452007
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ...
Genetics and molecular biology 33, 589-604, 2010
2092010
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG) n allele at the SCA17 locus
I Silveira, C Miranda, L Guimaraes, MC Moreira, I Alonso, P Mendonca, ...
Archives of neurology 59 (4), 623-629, 2002
1962002
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG) n
LB Jardim, ML Pereira, I Silveira, A Ferro, J Sequeiros, R Giugliani
Archives of neurology 58 (6), 899-904, 2001
1742001
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
MV Munoz‐Rojas, T Vieira, R Costa, S Fagondes, A John, LB Jardim, ...
American journal of medical genetics Part A 146 (19), 2538-2544, 2008
1562008
DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease
S Olgiati, M Quadri, M Fang, JPMA Rood, JA Saute, HF Chien, ...
Annals of neurology 79 (2), 244-256, 2016
124*2016
Ataxia rating scales—psychometric profiles, natural history and their application in clinical trials
JAM Saute, KC Donis, C Serrano-Munuera, D Genis, LT Ramirez, ...
The Cerebellum 11 (2), 488-504, 2012
1202012
A survey of spinocerebellar ataxia in South Brazil–66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations
LB Jardim, I Silveira, ML Pereira, A Ferro, I Alonso, M do Céu Moreira, ...
Journal of neurology 248 (10), 870-876, 2001
1152001
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
GB Biancini, CS Vanzin, DB Rodrigues, M Deon, GS Ribas, AG Barschak, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (2), 226-232, 2012
992012
Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes
RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer, A Russo, ...
The Cerebellum 13 (1), 17-28, 2014
952014
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy
L Jardim, L Vedolin, IVD Schwartz, MG Burin, C Cecchin, L Kalakun, ...
Journal of inherited metabolic disease 27 (2), 229-240, 2004
942004
High germinal instability of the (CTG) n at the SCA8 locus of both expanded and normal alleles
I Silveira, I Alonso, L Guimaraes, P Mendonca, C Santos, P Maciel, ...
The American Journal of Human Genetics 66 (3), 830-840, 2000
832000
Nonmotor and extracerebellar features in Machado‐Joseph disease: a review
JL Pedroso, MC Franca Jr, P Braga‐Neto, A D'Abreu, ML Saraiva‐Pereira, ...
Movement Disorders 28 (9), 1200-1208, 2013
802013
Survival estimates for patients with Machado–Joseph disease (SCA3)
C Kieling, PR Prestes, ML Saraiva‐Pereira, LB Jardim
Clinical genetics 72 (6), 543-545, 2007
762007
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
R Giugliani, A Federhen, MV Muñoz Rojas, TA Vieira, O Artigalás, ...
Revista da Associação Médica Brasileira 56, 271-277, 2010
72*2010
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease
S Martins, F Calafell, C Gaspar, VCN Wong, I Silveira, GA Nicholson, ...
Archives of neurology 64 (10), 1502-1508, 2007
702007
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ...
The Lancet Neurology 17 (7), 597-608, 2018
682018
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
L Schöls, TW Rattay, P Martus, C Meisner, J Baets, I Fischer, C Jägle, ...
Brain 140 (12), 3112-3127, 2017
662017
A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)
C Kieling, CRM Rieder, ACF Silva, JAM Saute, CR Cecchin, TL Monte, ...
European journal of neurology 15 (4), 371-376, 2008
642008
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