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
بريد إلكتروني تم التحقق منه على hcpa.edu.br
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
3212007
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
1662001
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
1172001
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
892014
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
861996
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
762013
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
702007
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
642004
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
582008
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
572014
Ciências físicas e naturais
C Galvão, A Neves, AM Freire, AM Lopes, MC Santos, MC Vilela, ...
Orientações curriculares para o 3º ciclo do ensino básico. Lisboa …, 2001
552001
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
522009
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
501994
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, 2007
492007
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
461990
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 (1), 73-77, 1993
451993
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)
T Almeida, I Alonso, S Martins, EM Ramos, L Azevedo, K Ohno, A Amorim, ...
PloS one 4 (2), e4553, 2009
442009
CFTR gene: molecular analysis in patients from South Brazil
C Streit, AC Burlamaque-Neto, FA e Silva, R Giugliani, MLS Pereira
Molecular genetics and metabolism 78 (4), 259-264, 2003
432003
Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds
LB Jardim, ML Pereira, I Silveira, A Ferro, J Sequeiros, R Giugliani
Acta neurologica scandinavica 104 (4), 224-231, 2001
432001
Molecular characterization of phenylketonuria in South Brazil
LCS da Silva, TS Carvalho, FB da Silva, L Morari, ÂA Fachel, R Pires, ...
Molecular genetics and metabolism 79 (1), 17-24, 2003
422003
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مقالات 1–20