Estrella Gomez-Tortosa

Summary

Country: Spain

Publications

  1. ncbi request reprint Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain Electronic address
    Alzheimers Dement 10:S284-9. 2014
  2. ncbi request reprint Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
    E Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Neurol 20:1319-24. 2013
  3. ncbi request reprint C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 80:366-70. 2013
  4. ncbi request reprint Outcome of mild cognitive impairment comparing early memory profiles
    Estrella Gomez-Tortosa
    Department of Neurology, Instituto de Investigacion Sanitaria, Fundacion Jimenez Diaz, Neuroradiology Section, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Geriatr Psychiatry 20:827-35. 2012
  5. pmc Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
  6. ncbi request reprint Visual hallucinations and HLA class II antigens in cortical dementia
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Dement Geriatr Cogn Disord 30:8-11. 2010
  7. ncbi request reprint Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    J Alzheimers Dis 19:873-84. 2010
  8. ncbi request reprint Variability of age at onset in siblings with familial Alzheimer disease
    Estrella Gómez-Tortosa
    Department of Neurology, Fundación Jiménez Díaz, Avda Reyes Católicos 2, 28040, Madrid, Spain
    Arch Neurol 64:1743-8. 2007
  9. ncbi request reprint Patterns of protein nitration in dementia with Lewy bodies and striatonigral degeneration
    Estrella Gomez-Tortosa
    Servicio de Neurologia, Fundación Jiménez Díaz and Banco de Tejidos para Investigación Neurológica, Universidad Complutense, 28040 Madrid, Spain
    Acta Neuropathol 103:495-500. 2002
  10. ncbi request reprint Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis
    Manuel Baron
    Fundacion Hospital Alcorcon, Madrid, Spain
    Alzheimer Dis Assoc Disord 26:91-5. 2012

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain Electronic address
    Alzheimers Dement 10:S284-9. 2014
    ..Patients with FTLD have been considered "phenocopies," with an underlying nondegenerative neurologic process...
  2. ncbi request reprint Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
    E Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Neurol 20:1319-24. 2013
    ..A frequent neuroimaging pattern in this type of dementia is asymmetric cortical atrophy. The aim of this study was to screen for GRN-linked FTLD in cases with different cortical dementia phenotypes and asymmetric perisylvian atrophy...
  3. ncbi request reprint C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 80:366-70. 2013
    ..This study explored the possible pathogenic correlation of the 20-22 repeats expansion (short expansion)...
  4. ncbi request reprint Outcome of mild cognitive impairment comparing early memory profiles
    Estrella Gomez-Tortosa
    Department of Neurology, Instituto de Investigacion Sanitaria, Fundacion Jimenez Diaz, Neuroradiology Section, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Geriatr Psychiatry 20:827-35. 2012
    ..This study tests a clinical observation suggesting that aMCI cases with better-preserved recognition skills, despite similar delayed recall deficits, are more likely to remain functionally stable...
  5. pmc Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study
    Jian Liang Li
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    BMC Med Genet 7:71. 2006
    ....
  6. ncbi request reprint Visual hallucinations and HLA class II antigens in cortical dementia
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    Dement Geriatr Cogn Disord 30:8-11. 2010
    ..We hypothesized that the genetic marker associated with narcolepsy, the HLA class II DR2-DQ6 haplotype, could confer some degree of susceptibility to brainstem-hypothalamic damage leading to the manifestation of visual hallucinations...
  7. ncbi request reprint Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, Madrid, Spain
    J Alzheimers Dis 19:873-84. 2010
    ..This series points to a strong influence of the specific genetic defect in the development of the clinical phenotype...
  8. ncbi request reprint Variability of age at onset in siblings with familial Alzheimer disease
    Estrella Gómez-Tortosa
    Department of Neurology, Fundación Jiménez Díaz, Avda Reyes Católicos 2, 28040, Madrid, Spain
    Arch Neurol 64:1743-8. 2007
    ..Variability of age at onset (AO) of Alzheimer disease (AD) among members of the same family is important as a biological clue and because of its clinical effects...
  9. ncbi request reprint Patterns of protein nitration in dementia with Lewy bodies and striatonigral degeneration
    Estrella Gomez-Tortosa
    Servicio de Neurologia, Fundación Jiménez Díaz and Banco de Tejidos para Investigación Neurológica, Universidad Complutense, 28040 Madrid, Spain
    Acta Neuropathol 103:495-500. 2002
    ..The presence of alpha-synuclein-positive deposits lacking 3-NT immunoreactivity suggests that nitration is not a prerequisite for alpha-synuclein deposition...
  10. ncbi request reprint Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis
    Manuel Baron
    Fundacion Hospital Alcorcon, Madrid, Spain
    Alzheimer Dis Assoc Disord 26:91-5. 2012
    ..The finding of a recessive model of inheritance, consistent with the assumption of inbreeding as a morbidity factor in this population, supports the notion of a role of recessive genes in LOAD...
  11. ncbi request reprint A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes
    Adriano Jimenez-Escrig
    Hospital Ramon y Cajal, Universidad de Alcala, Madrid, Spain
    Brain 128:1707-15. 2005
    ..The simulation analysis suggests that it will be feasible to locate a novel responsible gene in these kindred...
  12. ncbi request reprint Cerebrospinal fluid markers in dementia with lewy bodies compared with Alzheimer disease
    Estrella Gomez-Tortosa
    Department of Neurology, Fundacion Jimenez Diaz, the Brain Bank for Neurological Research, Complutense University, Madrid, Spain
    Arch Neurol 60:1218-22. 2003
    ..We analyzed cerebrospinal fluid (CSF) markers that reflect the pathological differences between AD and DLB...
  13. ncbi request reprint The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia
    Juan J Zarranz
    Department of Neurology, de Cruces Hospital, Departament of Neuroscience, University del Pais Vasco, Baracaldo, Vizcaya, Spain
    Ann Neurol 55:164-73. 2004
    ..Our data show that, in addition to the previously described hereditary alpha-synucleinopathies, dementia with Lewy bodies is related to mutation of alpha-synuclein...