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Maria Luiza Saraiva-Pereira (Maria Luiza Barth)
Maria Luiza Saraiva-Pereira (Maria Luiza Barth)
Professor Titular de Bioquímica, Universidade Federal do Rio Grande do Sul e Hospital de Clínicas de
在 hcpa.edu.br 的电子邮件经过验证
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引用次数
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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
4452007
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
1942001
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, 870-876, 2001
1282001
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, 17-28, 2014
1262014
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
1052007
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
1022013
A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene (∗)
AN Smith, ML Barth, TL McDowell, DS Moulin, HN Nuthall, ...
Journal of Biological Chemistry 271 (17), 9947-9954, 1996
951996
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
852008
A randomized, phase 2 clinical trial of lithium carbonate in Machado‐Joseph disease
JAM Saute, RM de Castilhos, TL Monte, AF Schumacher‐Schuh, ...
Movement Disorders 29 (4), 568-573, 2014
802014
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
CR Cecchin, AP Pires, CR Rieder, TL Monte, I Silveira, T Carvalho, ...
Public Health Genomics 10 (1), 19-26, 2006
772006
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases
A Wajner, K Michelin, MG Burin, RF Pires, MLS Pereira, R Giugliani, ...
Clinical biochemistry 37 (10), 893-897, 2004
732004
Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions
MP Socal, VE Emmel, CRM Rieder, A Hilbig, ML Saraiva-Pereira, ...
Parkinsonism & related disorders 15 (5), 374-378, 2009
642009
Progression rate of neurological deficits in a 10-year cohort of SCA3 patients
LB Jardim, L Hauser, C Kieling, JAM Saute, R Xavier, CRM Rieder, ...
The Cerebellum 9, 419-428, 2010
612010
The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease
C Bettencourt, M Raposo, N Kazachkova, T Cymbron, C Santos, T Kay, ...
Archives of neurology 68 (12), 1580-1583, 2011
602011
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
ML Barth, C Ward, A Harris, A Saad, A Fensom
Journal of medical genetics 31 (9), 667-671, 1994
561994
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.
MB Viana, R Giugliani, VH Leite, ML Barth, C Lekhwani, CM Slade, ...
Journal of medical genetics 27 (8), 499-504, 1990
531990
Body mass index is inversely correlated with the expanded CAG repeat length in SCA3/MJD patients
JAM Saute, ACF da Silva, GN Souza, AD Russo, KC Donis, L Vedolin, ...
The Cerebellum 11, 771-774, 2012
522012
Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach
D Burguez, M Polese-Bonatto, LAJ Scudeiro, I Björkhem, L Schöls, ...
Journal of the Neurological Sciences 383, 18-25, 2017
512017
Molecular characterization of phenylketonuria in South Brazil
LCS da Silva, TS Carvalho, FB da Silva, L Morari, AA Fachel, R Pires, ...
Molecular genetics and metabolism 79 (1), 17-24, 2003
512003
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
ML Barth, A Fensom, A Harris
Human genetics 91, 73-77, 1993
511993
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