R Sanchez-Valle

Summary

Country: Spain

Publications

  1. ncbi request reprint A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas
    R Sanchez-Valle
    Alzheimer s Disease and Other Cognitive Disorders Unit, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 14:1409-12. 2007
  2. ncbi request reprint Cortical brain metabolism as measured by proton spectroscopy is related to memory performance in patients with amnestic mild cognitive impairment and Alzheimer's disease
    L Rami
    Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Barcelona, Spain
    Dement Geriatr Cogn Disord 24:274-9. 2007
  3. ncbi request reprint Late-onset frontotemporal dementia associated with a novel PGRN mutation
    A Lladó
    Alzheimer s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clinic and Institut d Investigació Biomèdica August Pi i Sunyer IDIBAPS, Barcelona, Spain
    J Neural Transm 114:1051-4. 2007
  4. doi request reprint Neuroimaging and biochemical markers in the three variants of primary progressive aphasia
    S Gil-Navarro
    Alzheimer s Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clinic, Barcelona, Spain
    Dement Geriatr Cogn Disord 35:106-17. 2013
  5. doi request reprint Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease
    M Balasa
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d Investigacio Biomedica August Pi i Sunyer, Barcelona, Spain
    Neurology 76:1720-5. 2011
  6. doi request reprint Decreased striatal dopamine transporter uptake in the non-fluent/agrammatic variant of primary progressive aphasia
    S Gil-Navarro
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 20:1459-e126. 2013
  7. ncbi request reprint MAPT gene duplications are not a cause of frontotemporal lobar degeneration
    A Lladó
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic and the August Pi i Sunyer Institute of Biomedical Research IDIBAPS, Barcelona, Spain
    Neurosci Lett 424:61-5. 2007
  8. doi request reprint A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression
    A Lladó
    Alzheimer s Disease and Other Cognitive Disorders Unit, Institut d Investigacio Biomedica August Pi i Sunyer IDIBAPS, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 17:994-6. 2010
  9. doi request reprint The memory alteration test (M@T) discriminates between subjective memory complaints, mild cognitive impairment and Alzheimer's disease
    L Rami
    Alzheimer s Disease and Other Cognitive Disorders Unit, Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Institut d Investigacio Biomedica August Pi i Sunyer, C Villarroell, 170, 08036 Barcelona, Spain
    Arch Gerontol Geriatr 50:171-4. 2010
  10. doi request reprint PICOGEN: five years experience with a genetic counselling program for dementia
    J Fortea
    Unidad de Alzheimer y Otros Trastornos Cognitivos, Hospital Clinic de Barcelona, Barcelona, Spain
    Neurologia 26:143-9. 2011

Collaborators

Detail Information

Publications17

  1. ncbi request reprint A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas
    R Sanchez-Valle
    Alzheimer s Disease and Other Cognitive Disorders Unit, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 14:1409-12. 2007
    ..L286P is a novel mutation in PSEN1 that causes familial early-onset AD and brain haematomas related to amyloid angiopathy...
  2. ncbi request reprint Cortical brain metabolism as measured by proton spectroscopy is related to memory performance in patients with amnestic mild cognitive impairment and Alzheimer's disease
    L Rami
    Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Barcelona, Spain
    Dement Geriatr Cogn Disord 24:274-9. 2007
    ..To characterize metabolite abnormalities across the continuum of degenerative disease from mild impairment to dementia...
  3. ncbi request reprint Late-onset frontotemporal dementia associated with a novel PGRN mutation
    A Lladó
    Alzheimer s Disease and Cognitive Disorders Unit, Neurology Service, Hospital Clinic and Institut d Investigació Biomèdica August Pi i Sunyer IDIBAPS, Barcelona, Spain
    J Neural Transm 114:1051-4. 2007
    ..The A303AfsX57 mutation is consistent with a nucleotide deletion in exon 8 (c908delC). This deletion causes a frameshift at codon 303 that introduces a premature termination codon (A303AfsX57)...
  4. doi request reprint Neuroimaging and biochemical markers in the three variants of primary progressive aphasia
    S Gil-Navarro
    Alzheimer s Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clinic, Barcelona, Spain
    Dement Geriatr Cogn Disord 35:106-17. 2013
    ..To investigate in variants of primary progressive aphasia (PPA) the association between current clinical and neuroimaging criteria and biochemical/genetic markers at the individual level...
  5. doi request reprint Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease
    M Balasa
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d Investigacio Biomedica August Pi i Sunyer, Barcelona, Spain
    Neurology 76:1720-5. 2011
    ..Our aim was to describe the clinical features, APOE genotype, and its pathologic correlations of neuropathologic confirmed EOAD...
  6. doi request reprint Decreased striatal dopamine transporter uptake in the non-fluent/agrammatic variant of primary progressive aphasia
    S Gil-Navarro
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 20:1459-e126. 2013
    ..The objective of the present study was to study whether non-fluent/agrammatic patients without parkinsonism at baseline present decreased striatal 123I-FP-CIT uptake...
  7. ncbi request reprint MAPT gene duplications are not a cause of frontotemporal lobar degeneration
    A Lladó
    Alzheimer s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic and the August Pi i Sunyer Institute of Biomedical Research IDIBAPS, Barcelona, Spain
    Neurosci Lett 424:61-5. 2007
    ..Although our study was limited by the relatively small number of patients, it does not support the theory that chromosomal rearrangements in this region are a cause of FTLD...
  8. doi request reprint A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression
    A Lladó
    Alzheimer s Disease and Other Cognitive Disorders Unit, Institut d Investigacio Biomedica August Pi i Sunyer IDIBAPS, Hospital Clinic, Barcelona, Spain
    Eur J Neurol 17:994-6. 2010
    ..To describe a novel mutation (K239N) in the PSEN1 associated with familial Alzheimer's disease (AD)...
  9. doi request reprint The memory alteration test (M@T) discriminates between subjective memory complaints, mild cognitive impairment and Alzheimer's disease
    L Rami
    Alzheimer s Disease and Other Cognitive Disorders Unit, Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Institut d Investigacio Biomedica August Pi i Sunyer, C Villarroell, 170, 08036 Barcelona, Spain
    Arch Gerontol Geriatr 50:171-4. 2010
    ..99). We conclude that the M@T provides efficient and valid discrimination between SMC subjects and A-MCI, and between SMC subjects and mild AD...
  10. doi request reprint PICOGEN: five years experience with a genetic counselling program for dementia
    J Fortea
    Unidad de Alzheimer y Otros Trastornos Cognitivos, Hospital Clinic de Barcelona, Barcelona, Spain
    Neurologia 26:143-9. 2011
    ..We describe the 5 year experience of a genetic counselling program for familial dementias (the PICOGEN program)...
  11. doi request reprint Hirano body-rich subtypes of Creutzfeldt-Jakob disease
    E Martínez-Sáez
    Neurological Tissue Bank University of Barcelona CCiT, Hospital Clinic, IDIBAPS Vall d Hebron Research Institute and Pathology Department, Spain
    Neuropathol Appl Neurobiol 38:153-61. 2012
    ..HB are frequently found in aged individuals with Alzheimer pathology although they are not a specific finding...
  12. ncbi request reprint Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients
    A Lladó
    Alzheimer s Disease and Other Cognitive Disorders Unit, Service of Neurology, Hospital Clinic and Institut d Investigació Biomèdica August Pi i Sunyer IDIBAPS, Barcelona, Spain
    J Neural Transm 114:1585-8. 2007
    ..The 4R/3R mRNA ratio in frontal cortex was similar in FTLD patients and controls. The H1/H1 genotype carriers showed a significant increase in 4R/3R mRNA ratio, suggesting that this genotype could modulate the tau mRNA splicing...
  13. ncbi request reprint Screening for amnestic mild cognitive impairment and early Alzheimer's disease with M@T (Memory Alteration Test) in the primary care population
    L Rami
    Memory Alzheimer Unit, Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Institut d Investigacio Biomedica August Pi i Sunyer, Spain
    Int J Geriatr Psychiatry 22:294-304. 2007
    ..To design and validate a new screening test for amnestic Mild Cognitive Impairment (A-MCI) and early stage Alzheimer's disease (AD)...
  14. ncbi request reprint [New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease]
    A Lladó
    Unitat d Alzheimer i altres trastorns cognitius, Servei de Neurologia, ICN, Hospital Clinic de Barcelona, Institut d Investigacio Biomedica August Pi i Sunyer IDIBAPS, Barcelona, Espana
    Neurologia 25:13-6. 2010
    ..To describe a novel mutation in exon 5 of the presenilin 1 gene (E120G)associated with early-onset autosomal dominant Alzheimer's disease (AD)...
  15. ncbi request reprint Clinical and genetic features of human prion diseases in Catalonia: 1993-2002
    R Sanchez-Valle
    Services of Neurology, Institut d Investigació Biomédica August Pi i Sunyer IDABAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain
    Eur J Neurol 11:649-55. 2004
    ..No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases...
  16. doi request reprint Naming is associated with left temporal pole metabolite levels in neurodegenerative diseases
    L Rami
    Alzheimer s Disease and Other Cognitive Disorders Unit, Department of Neurology, Institute of Neurosciences, Hospital Clinic i Universitari de Barcelona, Barcelona, Spain
    Dement Geriatr Cogn Disord 25:212-7. 2008
    ..To investigate the relationship between performance in language tests and levels of brain metabolites in two selected left temporal lobe regions...