Lista de obras -

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

article

A prospective study of SCA3 gait ataxia described through a Markovian method

artículo científico publicado en 2010

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

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

artículo científico publicado en 2016

Akathisia: An unusual movement disorder in Machado-Joseph disease

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

artículo científico

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

CAG repeat size influences the progression rate of spinocerebellar ataxia type 3

scientific article published on 25 September 2020

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Challenges in quantifying ataxia in core and comorbid early onset ataxias

scientific article published on 01 November 2016

Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch.

artículo científico publicado en 2017

Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents

artículo científico publicado en 2013

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Clinical aspects of neuropathic lysosomal storage disorders

artículo científico publicado en 2010

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers

scientific article published on 09 May 2019

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

DNA damage and repair in individuals with ataxia-telangiectasia and their parents

scientific article published on 01 June 2018

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

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

Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease

artículo científico publicado en 2022

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

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience

scientific article published on 01 December 2019

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

scientific article published on 01 February 2019

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

scientific article published on 01 April 2020

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

artículo científico publicado en 2014

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

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

artículo científico publicado en 2017

Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.

artículo científico publicado en 2007

Huntington's disease-like disorders in Latin America and the Caribbean

artículo científico publicado en 2018

Impaired P50 sensory gating in Machado-Joseph disease

artículo científico publicado en 2004

Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression.

artículo científico publicado en 2017

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

artículo científico publicado en 2009

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

artículo científico publicado en 2008

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

artículo científico publicado en 2009

Letter re: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

artículo científico publicado en 2017

MR Imaging in Spinocerebellar Ataxias: A Systematic Review

artículo científico publicado en 2016

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

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

artículo científico publicado en 2010

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

artículo científico publicado en 2003

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

artículo científico publicado en 2014

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

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

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

scientific article published on 01 June 2019

Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-L-cysteine, Trolox, and Rosuvastatin

article

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy

artículo científico publicado en 2007

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

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

artículo científico publicado en 2017

Planning Future Clinical Trials for Machado-Joseph Disease.

artículo científico publicado en 2018

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

artículo científico

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Population-specific genetic modification of Huntington's disease in Venezuela.

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Progression Rate of Neurological Deficits in a 10-Year Cohort of SCA3 Patients

article by Laura Bannach Jardim et al published 15 May 2010 in The Cerebellum

Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.

artículo científico publicado en 2015

Protective effect of antioxidants on DNA damage in leukocytes from X-linked adrenoleukodystrophy patients.

artículo científico publicado en 2015

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

artículo científico publicado en 2021

Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease

artículo científico publicado en 2022

Riluzole in patients with hereditary cerebellar ataxia

artículo científico publicado en 2016

S100B and NSE serum concentrations in Machado Joseph disease

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

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 3/Machado-Joseph disease starting before adolescence

artículo científico publicado en 2016

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

Subcutaneous insulin-like growth factor-1 treatment in spinocerebellar ataxias: an open label clinical trial

scientific article published on 19 October 2010

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

artículo científico publicado el 1 de mayo de 2010

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

artículo científico publicado en 2011

The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy.

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

When ataxia is not just ataxia

article published in 2007

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up

artículo científico publicado en 2006

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

article

X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil

artículo científico publicado en 2009

Lista de obras de

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

A prospective study of SCA3 gait ataxia described through a Markovian method

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

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

Akathisia: An unusual movement disorder in Machado-Joseph disease

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

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

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

CAG repeat size influences the progression rate of spinocerebellar ataxia type 3

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

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

Challenges in quantifying ataxia in core and comorbid early onset ataxias

Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch.

Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

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

Clinical aspects of neuropathic lysosomal storage disorders

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

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

Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers

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.

DNA damage and repair in individuals with ataxia-telangiectasia and their parents

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

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.

Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease

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

Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience

Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

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

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

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

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

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

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.

Huntington's disease-like disorders in Latin America and the Caribbean

Impaired P50 sensory gating in Machado-Joseph disease

Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy.

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

Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression.

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

Letter re: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

MR Imaging in Spinocerebellar Ataxias: A Systematic Review

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

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy

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

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

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

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.

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

Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-L-cysteine, Trolox, and Rosuvastatin

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy

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

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

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