All Stories

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

    Article • Aging, March 2020, Impact Journals, LLC

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, February 2020, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  3. Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease

    Article • Arquivos de Neuro-Psiquiatria, February 2020, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2020, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2020, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • NeuroMolecular Medicine, October 2019, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  7. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population

    Article • The Cerebellum, July 2019, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  8. Population medical genetics: translating science to the community

    Article • Genetics and Molecular Biology, April 2019, FapUNIFESP (SciELO)

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

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

    Article • Parkinsonism & Related Disorders, April 2019, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Neurobiology, February 2019, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2019, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Genetics and Molecular Biology, January 2019, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Genetics and Molecular Biology, January 2019, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

  14. Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations

    Article • European Journal of Neurology, December 2018, Wiley

    Prof Maria Luiza Saraiva-Pereira

  15. Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2

    Article • The Cerebellum, November 2018, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of Neurology Neurosurgery & Psychiatry, October 2018, BMJ

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Arquivos de Neuro-Psiquiatria, October 2018, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • European Journal of Neurology, September 2018, Wiley

    Prof Maria Luiza Saraiva-Pereira

  19. Selective Forces Related to Spinocerebellar Ataxia Type 2

    Article • The Cerebellum, September 2018, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  20. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

    Article • The Cerebellum, June 2018, Springer Science + Business Media

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

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

    Article • Orphanet Journal of Rare Diseases, January 2018, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of the Neurological Sciences, December 2017, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • International Journal of Developmental Neuroscience, November 2017, Wiley

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Epilepsy Research, November 2017, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • NeuroMolecular Medicine, September 2017, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Parkinsonism & Related Disorders, September 2017, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Epilepsy & Behavior, June 2017, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • European Journal of Neurology, May 2017, Wiley

    Prof Maria Luiza Saraiva-Pereira, Jorge Sequeiros

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

    Article • The Cerebellum, April 2017, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, April 2017, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  31. Cancer in Machado–Joseph disease patients—low frequency as a cause of death

    Article • Cancer Genetics, April 2017, Elsevier

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • Arquivos de Neuro-Psiquiatria, December 2016, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

  33. 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

    Article • Clinica Chimica Acta, August 2016, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Genetics and Molecular Biology, June 2016, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Glycoconjugate Journal, March 2016, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Clinical Genetics, February 2016, Wiley

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2016, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Neurogenetics, January 2016, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2016, Springer Science + Business Media

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, December 2015, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of the Neurological Sciences, November 2015, Elsevier

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

  42. Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3

    Article • The Cerebellum, September 2015, Springer Science + Business Media

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • Clinical Genetics, August 2015, Wiley

    Raphael Castilhos, Prof Maria Luiza Saraiva-Pereira

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

    Article • Gene, August 2015, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of the Neurological Sciences, July 2015, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  46. Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients

    Article • Movement Disorders Clinical Practice, May 2015, Wiley

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Genetics and Metabolism, February 2015, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Genetics and Metabolism, February 2015, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of the Neurological Sciences, December 2014, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  50. Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

    Article • RNA Biology, October 2014, Taylor & Francis

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Arquivos de Neuro-Psiquiatria, March 2014, FapUNIFESP (SciELO)

    Professor Helio A. G. Teive, Prof Maria Luiza Saraiva-Pereira

  52. MiRNAs and glucocerebrosidase: lessons from miRNA mimic screening

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  53. Neurological phenotypes in Niemann-Pick disease type C (NPC): clinical, biochemical and neuroradiological retrospective review of 48 Brazilian patients

    Article • Molecular Genetics and Metabolism, February 2014, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Movement Disorders, January 2014, Wiley

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Genetics and Metabolism Reports, January 2014, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Clinical Genetics, October 2013, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  57. Unusual movement disorders in spinocerebellar ataxias

    Article • Parkinsonism & Related Disorders, September 2013, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  58. Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes

    Article • The Cerebellum, August 2013, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Gene, July 2013, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Movement Disorders, June 2013, Wiley

    Professor Helio A. G. Teive, Prof Maria Luiza Saraiva-Pereira

  61. Genetic Diagnosis in Recently Transfused Patients

    Article • Diagnostic Molecular Pathology, June 2013, Wolters Kluwer Health

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Journal of Biomolecular Structure and Dynamics, April 2013, Taylor & Francis

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Jornal Brasileiro de Pneumologia, April 2013, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Brazilian Journal of Medical and Biological Research, October 2012, FapUNIFESP (SciELO)

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • Human Reproduction, June 2012, Oxford University Press (OUP)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Revista Brasileira de Epidemiologia, June 2012, FapUNIFESP (SciELO)

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, March 2012, Springer Science + Business Media

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

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

    Article • Parkinsonism & Related Disorders, February 2012, Elsevier

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, January 2012, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Nutritional Neuroscience, January 2012, Taylor & Francis

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Frontiers in Neurology, January 2012, Frontiers

    Prof Maria Luiza Saraiva-Pereira

  73. Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

    Article • JIMD Reports, January 2012, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  74. 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

    Article • Genetics and Molecular Biology, January 2012, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

  75. Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR

    Article • Genetics and Molecular Biology, January 2012, FapUNIFESP (SciELO)

    Prof Maria Luiza Saraiva-Pereira

  76. The <emph type="ital">APOE</emph> ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease

    Article • Archives of Neurology, December 2011, American Medical Association (AMA)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • The Cerebellum, November 2011, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  78. Akathisia: An unusual movement disorder in Machado–Joseph disease

    Article • Parkinsonism & Related Disorders, November 2011, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  79. Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing

    Article • Journal of Genetic Counseling, June 2011, Wiley

    Prof Maria Luiza Saraiva-Pereira

  80. Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency

    Article • Jornal de Pediatria, June 2011, Jornal de Pediatria

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Brazilian Journal of Medical and Biological Research, April 2011, FapUNIFESP (SciELO)

    Suzi Camey, Prof Maria Luiza Saraiva-Pereira

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

    Article • Molecular Genetics and Metabolism, January 2011, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  83. Prevalence ofUGT1A1Gene Polymorphism in Patients with Hemolytic Anemia in Southern Brazil

    Article • Genetic Testing and Molecular Biomarkers, January 2011, Mary Ann Liebert Inc

    Prof Maria Luiza Saraiva-Pereira, Dr Simone Martins de Castro

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

    Article • Clinical Genetics, December 2010, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

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

    Article • Movement Disorders, November 2010, Wiley

    Prof Maria Luiza Saraiva-Pereira

  86. Depressive Mood is Associated with Ataxic and Non-Ataxic Neurological Dysfunction in SCA3 Patients

    Article • The Cerebellum, August 2010, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  87. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy

    Article • Journal of Inherited Metabolic Disease, July 2010, Wiley

    Prof Maria Luiza Saraiva-Pereira

  88. EMQN Best Practice Guidelines for molecular genetic testing of SCAs

    Article • European Journal of Human Genetics, February 2010, Nature

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira, Professor Kyproula Christodoulou

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

    Article • Epilepsy Research, February 2010, Elsevier

    Dr Sandra Leistner-Segal, Prof Maria Luiza Saraiva-Pereira

  90. Polymorphic Variants of UGT1A1 in Neonatal Jaundice in Southern Brazil

    Article • Journal of Tropical Pediatrics, January 2010, Oxford University Press (OUP)

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Familial Cancer, October 2009, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, August 2009, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

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

    Article • Brazilian Journal of Psychiatry, June 2009, FRACTAL EDITORA LTDA

    Prof Maria Luiza Saraiva-Pereira

  94. Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions

    Article • Parkinsonism & Related Disorders, June 2009, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  95. Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

    Article • PLoS ONE, February 2009, PLOS

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

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

    Article • Parkinsonism & Related Disorders, January 2009, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  97. In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells

    Article • Metabolic Brain Disease, September 2008, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • European Journal of Human Genetics, February 2008, Nature

    Hideshi Kawakami, Prof Maria Luiza Saraiva-Pereira

  99. Prevalence of 4977bp Deletion in Mitochondrial DNA from Patients with Chronic Kidney Disease Receiving Conservative Treatment or Hemodialysis in Southern Brazil

    Article • Renal Failure, January 2008, Taylor & Francis

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Annals of Human Genetics, August 2007, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  101. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

    Article • Neurology, May 2007, Wolters Kluwer Health

    Alessio Di Fonzo, Prof Maria Luiza Saraiva-Pereira

  102. Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives

    Article • Community Genetics, January 2007, Karger Publishers

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  103. Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

    Article • Clinical Genetics, July 2006, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  104. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

    Article • Neurology, May 2006, Wolters Kluwer Health

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

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

    Article • Child s Nervous System, March 2006, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

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

    Article • Clinica Chimica Acta, December 2005, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  107. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

    Article • Clinical Biochemistry, October 2004, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  108. Impaired P50 sensory gating in Machado-Joseph disease

    Article • Clinical Neurophysiology, October 2004, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  109. Molecular characterization of phenylketonuria in South Brazil

    Article • Molecular Genetics and Metabolism, May 2003, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  110. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

    Article • Acta Neurologica Scandinavica, March 2003, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  111. Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study

    Article • Acta Neurologica Scandinavica, March 2003, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  112. A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations

    Article • Journal of Neurology, October 2001, Springer Science + Business Media

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  113. Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

    Article • Acta Neurologica Scandinavica, October 2001, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  114. Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations

    Article • Clinical Genetics, July 2000, Wiley

    Prof Maria Luiza Saraiva-Pereira

  115. A Regulatory Element in Intron 1 of the Cystic Fibrosis Transmembrane Conductance Regulator Gene

    Article • Journal of Biological Chemistry, April 1996, Elsevier

    Prof Maria Luiza Saraiva-Pereira

  116. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

    Article • Journal of Medical Genetics, September 1994, BMJ

    Prof Maria Luiza Saraiva-Pereira

  117. The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

    Article • Journal of Medical Genetics, September 1994, BMJ

    Prof Maria Luiza Saraiva-Pereira

  118. Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

    Article • Journal of Medical Genetics, April 1993, BMJ

    Prof Maria Luiza Saraiva-Pereira

  119. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

    Article • Human Genetics, March 1993, Springer Science + Business Media

    Prof Maria Luiza Saraiva-Pereira

  120. Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients

    Article • American Journal of Medical Genetics, December 1990, Wiley

    Prof Maria Luiza Saraiva-Pereira

  121. Inborn Errors of Metabolism

    Article • Clinical Pediatrics, November 1989, SAGE Publications

    Prof Maria Luiza Saraiva-Pereira