Lista de obras - 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)

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Akathisia: An unusual movement disorder in Machado-Joseph disease

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

CFTR gene: molecular analysis in patients from South Brazil

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

artículo científico publicado en 2015

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2012

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.

artículo científico

Genetic diagnosis in recently transfused patients

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Molecular characterization of phenylketonuria in South Brazil

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Selective Forces Related to Spinocerebellar Ataxia Type 2

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

article

Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

artículo científico publicado en 2011

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

artículo científico publicado en 2011

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy

artículo científico publicado en 1994

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Unusual movement disorders in spinocerebellar ataxias.

artículo científico publicado en 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

artículo científico publicado en 1990

Lista de obras de Maria Luiza Saraiva-Pereira

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

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

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

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

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

ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population

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

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

Akathisia: An unusual movement disorder in Machado-Joseph disease

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

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

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

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

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

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

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

CFTR gene: molecular analysis in patients from South Brazil

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

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

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

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

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

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

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

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

Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

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

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.

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

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

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

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

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

Direct reprogramming into interneurons: potential for brain repair

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

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

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

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

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

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

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

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

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

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

Genetic diagnosis in recently transfused patients

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

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

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

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

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

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

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

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

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

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

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

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

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

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

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

MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening

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

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

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

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

Molecular characterization of phenylketonuria in South Brazil

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

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

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

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

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

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

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

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

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

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

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

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