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List of works by Maria Luiza Saraiva-Pereira

A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil

article

A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)

scientific article published in February 2013

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

scientific article published on 27 February 2014

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

scientific article

A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.

scientific article published on 07 January 2014

ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population

scientific article published on 01 October 2019

ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America

scientific article published on 14 April 2015

Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin

scientific article published on 16 September 2018

Akathisia: An unusual movement disorder in Machado-Joseph disease

scientific article published on 24 June 2011

Alterations of PI3K and Akt signaling pathways in the hippocampus and hypothalamus of Wistar rats treated with highly palatable food

scientific article published in January 2012

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.

scientific article published on April 2016

Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers

scientific article published in December 2005

Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients

scientific article published on 17 November 2011

Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder

scientific article published in June 2009

Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients

scientific article published in February 2015

CFTR gene: molecular analysis in patients from South Brazil

scientific article published in April 2003

Cancer in Machado-Joseph disease patients-low frequency as a cause of death.

scientific article published on 30 March 2017

Changes in Brain 14-3-3 Proteins in Response to Insulin Resistance Induced by a High Palatable Diet

scientific article published on 4 October 2014

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

scientific article published in September 2015

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

scientific article published on 2 July 2010

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil

scientific article published in June 2010

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

scientific article

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

scientific article published on 01 March 2010

Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion

scientific article published on 22 March 2006

Correction to: Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

scientific article published on 01 April 2020

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese

scientific article published on 01 October 2018

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.

scientific article

Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

scientific article published on 21 April 2017

Depressive mood is associated with ataxic and non-ataxic neurological dysfunction in SCA3 patients.

scientific article published in December 2010

Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives.

scientific article published in January 2007

Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.

scientific article

Direct Reprogramming of Human Fetal- and Stem Cell-Derived Glial Progenitor Cells into Midbrain Dopaminergic Neurons

scientific article published on 08 September 2020

Direct reprogramming into interneurons: potential for brain repair

scientific article published on 27 June 2019

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

scientific article published in January 2011

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A.

scientific article published on 13 April 2013

Erratum to: Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients

scientific article published on 3 January 2012

Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean

scientific article published on 21 February 2020

Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease

scientific article published on 01 February 2020

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

scientific article published on 01 February 2019

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening.

scientific article

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance

scientific article published on 01 April 2020

Genetic aspects of Huntington's disease in Latin America. A systematic review.

scientific article published on 14 July 2015

Genetic diagnosis in recently transfused patients

scientific article published in June 2013

Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis

scientific article published on 18 October 2018

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

scientific article published on 23 March 2020

Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.

scientific article

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

article

Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase

scientific article published on 29 March 2016

Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation

scientific article published on 13 September 2017

High twinning rate in Candido Godoi: a new role for p53 in human fertility

scientific article published on 26 June 2012

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

scientific article published on 17 October 2013

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

scientific article

In Vivo Direct Reprogramming of Resident Glial Cells into Interneurons by Intracerebral Injection of Viral Vectors

scientific article published on 17 June 2019

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells

scientific article published on 17 September 2008

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

scientific article published in July 2015

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

scientific article published on 01 September 2020

Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

scientific article published on 07 August 2007

Memory and brain-derived neurotrophic factor after subchronic or chronic amphetamine treatment in an animal model of mania

scientific article

MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening

scientific article published in February 2014

Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions

scientific article published in April 2019

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

scientific article published on 07 December 2018

Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR.

scientific article published on 18 December 2012

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

scientific article published on 29 November 2017

Molecular characterization of phenylketonuria in South Brazil

scientific article published in May 2003

NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.

scientific article

NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study.

scientific article published on 25 August 2017

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

scientific article

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

scientific article

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene

scientific article published on 28 February 2019

Niemann-Pick disease type C: a case series of Brazilian patients

scientific article published in March 2014

No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy

scientific article published on 5 November 2009

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

scientific article published on 29 January 2016

Nonmotor and extracerebellar features in Machado-Joseph disease: a review.

scientific article published on 17 June 2013

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

scientific article published in February 2017

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease.

scientific article published on 19 November 2012

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease

scientific article published on 9 October 2012

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

scientific article published on 16 April 2010

Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7

scientific article published on 01 June 2019

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

scientific article published in January 2011

Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease

scientific article published in February 2015

Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians

scientific article

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

scientific article published on 20 February 2008

Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment

scientific article

Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial

scientific article published on 14 August 2015

Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil

article

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing

scientific article published on 30 June 2011

Prevalence of 4977bp deletion in mitochondrial DNA from patients with chronic kidney disease receiving conservative treatment or hemodialysis in southern Brazil.

scientific article

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

scientific article published on 17 May 2012

Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil

scientific article published in January 2011

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.

scientific article published on 11 March 2011

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

scientific article published in 2021

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

scientific article published in May 2006

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

scientific article published on 22 July 2015

Screening of high-risk Gaucher disease patients using dried blood spots techniques

scientific article published in July 2013

Selective Forces Related to Spinocerebellar Ataxia Type 2

scientific article published on 01 April 2019

Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: a systematic review and meta-analysis

scientific article published on 21 November 2020

Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.

scientific article published on 24 May 2016

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

article

Serum insulin-like system alterations in patients with spinocerebellar ataxia type 3

scientific article published on 10 November 2010

Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

scientific article published on 08 October 2014

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.

scientific article published on 31 May 2017

Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence

scientific article

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

scientific article published on 23 December 2015

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes

scientific article published in February 2014

State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change

scientific article published on 10 June 2019

Survival estimates for patients with Machado-Joseph disease (SCA3)

article

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

scientific article published on 8 June 2011

The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

scientific article published on 01 December 2011

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy

scientific article published on September 1994

The progression rate of spinocerebellar ataxia type 2 changes with stage of disease

scientific article

Tyrosine receptor kinase B gene variants (NTRK2 variants) are associated with depressive disorders in temporal lobe epilepsy.

scientific article

Unusual movement disorders in spinocerebellar ataxias.

scientific article published on 30 May 2013

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

scientific article published on 05 October 2019

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis

scientific article

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