L B Jardim

Summary

Country: Brazil

Publications

  1. ncbi Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype
    L Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
    Acta Neurol Scand 107:211-4. 2003
  2. ncbi Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n
    L B Jardim
    MD, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035 003 Porto Alegre, Brazil
    Arch Neurol 58:899-904. 2001
  3. ncbi Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil
    Acta Neurol Scand 104:224-31. 2001
  4. ncbi A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
    J Neurol 248:870-6. 2001
  5. ncbi CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy
    L Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90 035 003 Porto Alegre, Brazil
    J Inherit Metab Dis 27:229-40. 2004
  6. doi Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions
    M P Socal
    Medical Sciences, Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    Parkinsonism Relat Disord 15:374-8. 2009
  7. ncbi Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    J Inherit Metab Dis 29:653-9. 2006
  8. ncbi Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population
    P R Prestes
    Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Brazil
    Ann Hum Genet 72:57-64. 2008
  9. doi A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)
    C Kieling
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Eur J Neurol 15:371-6. 2008
  10. ncbi Survival estimates for patients with Machado-Joseph disease (SCA3)
    C Kieling
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Clin Genet 72:543-5. 2007

Collaborators

Detail Information

Publications20

  1. ncbi Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype
    L Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
    Acta Neurol Scand 107:211-4. 2003
    ..The variability in age at onset and the complex and heterogeneous neurologic findings indicate that MJD, caused by a major gene, is modulated by modifier factors...
  2. ncbi Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n
    L B Jardim
    MD, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035 003 Porto Alegre, Brazil
    Arch Neurol 58:899-904. 2001
    ..1, is a heterogeneous disorder for clinical manifestations. The reasons for the wide range of neurologic findings in this disease are poorly understood...
  3. ncbi Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil
    Acta Neurol Scand 104:224-31. 2001
    ..To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature...
  4. ncbi A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
    J Neurol 248:870-6. 2001
    ....
  5. ncbi CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy
    L Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90 035 003 Porto Alegre, Brazil
    J Inherit Metab Dis 27:229-40. 2004
    ..We conclude that MRI was more sensitive than neurological examination in detecting CNS involvement and progression in Fabry disease in the time interval studied...
  6. doi Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions
    M P Socal
    Medical Sciences, Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    Parkinsonism Relat Disord 15:374-8. 2009
    ..Our aim was to investigate a selected high-risk group of PD patients...
  7. ncbi Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
    L B Jardim
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    J Inherit Metab Dis 29:653-9. 2006
    ..To report the effect of enzyme replacement therapy (ERT) in sympathetic skin responses (SSR) of patients with Fabry disease...
  8. ncbi Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population
    P R Prestes
    Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Brazil
    Ann Hum Genet 72:57-64. 2008
    ..Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little studied...
  9. doi A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)
    C Kieling
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Eur J Neurol 15:371-6. 2008
    ..Global scores correlated with all external variables tested, showing NESSCA to be a comprehensive measure of disease severity that is both clinically useful and scientifically valid...
  10. ncbi Survival estimates for patients with Machado-Joseph disease (SCA3)
    C Kieling
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Clin Genet 72:543-5. 2007
    ..Early onset and large CAG length predicted shorter overall survival times. This study presents quantitative data on the impact of MJD on overall survival, a phenomenon that is related to CAG length, age at onset, and year of birth...
  11. ncbi Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
    C R Cecchin
    Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Community Genet 10:19-26. 2007
    ....
  12. ncbi Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study
    T L Monte
    Neurology, Hospital de Clinicas de Porto Alegre, Brazil
    Acta Neurol Scand 107:207-10. 2003
    ..Experimental data have shown that serotonin is an important cerebellar neurotransmitter and that impairment of the serotoninergic cerebellar system can induce cerebellar ataxia...
  13. ncbi Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil
    A C Puga
    Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
    Arq Neuropsiquiatr 58:597-606. 2000
    ..Epidemiological data on the prevalence of NCLs in Brazil are not available, we expect this series of cases to contribute to further research in our population...
  14. doi Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3
    M Siebert
    Biotechnology Centre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    Parkinsonism Relat Disord 18:185-90. 2012
    ....
  15. ncbi ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
    A Di Fonzo
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Neurology 68:1557-62. 2007
    ..To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD)...
  16. ncbi Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10
    I Alonso
    UnIGENe, IBMC, Universidade do Porto, Portugal
    Neurology 66:1602-4. 2006
  17. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  18. ncbi Huntington disease: DNA analysis in Brazilian population
    S Raskin
    Centro deAconselhamento e Laboratório Genetika Curitiba, PR, Brazil
    Arq Neuropsiquiatr 58:977-85. 2000
    ..Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients...
  19. ncbi Genomic analysis of Brazilian patients with Fabry disease
    F S Pereira
    Centro de Terapia Gênica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brasil
    Braz J Med Biol Res 40:1599-604. 2007
    ..Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling...
  20. ncbi Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings
    A Trott
    Clin Genet 70:173-6. 2006