Esteban Muñoz

Summary

Country: Spain

Publications

  1. pmc Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism
    E Munoz
    Movemente Disorder Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Villarroel 170, 08036 Barcelona, Spain
    J Neurol Neurosurg Psychiatry 73:582-4. 2002
  2. doi request reprint Subclinical nigrostriatal dopaminergic denervation in the cerebellar subtype of multiple system atrophy (MSA-C)
    Esteban Muñoz
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències ICN, Hospital Clinic i Universitari, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Centro de Investigación en Red de Enfermedades Neurodegenerativas CIBERNED, Villarroel 170, 08036, Barcelona, Catalunya, Spain
    J Neurol 258:2248-53. 2011
  3. ncbi request reprint Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy
    Esteban Muñoz
    Neurology Service, Institut Clinic de Malaties del Sistema Nerviós, Hospital Clinic i Universitari, Institut d Investigacions Biomediques August Pi i Sunyer, Brain Bank of the University of Barcelona, Barcelona, Spain
    Arch Neurol 61:946-9. 2004
  4. doi request reprint Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration
    Carles Gaig
    Department of Neurology, Hospital Clinic i Universitari de Barcelona, Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas, Barcelona, Spain
    J Neurol Sci 270:94-8. 2008
  5. doi request reprint Grey matter volume correlates of cerebrospinal markers of Alzheimer-pathology in Parkinson's disease and related dementia
    Yaroslau Compta
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències IDIBAPS, Centro de Investigación en Red de Enfermedades Neurodegenerativas, Hospital Clinic, Barcelona, Catalonia, Spain
    Parkinsonism Relat Disord 18:941-7. 2012
  6. doi request reprint Lack of association of APOE and tau polymorphisms with dementia in Parkinson's disease
    Mario Ezquerra
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clinic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, CIBERNED, Barcelona, Spain
    Neurosci Lett 448:20-3. 2008
  7. ncbi request reprint LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance
    Carles Gaig
    Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clinic, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain
    Arch Neurol 63:377-82. 2006
  8. doi request reprint Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy
    Mario Ezquerra
    Institut Clínic de Neurociències, Hospital Clinic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Barcelona, Catalonia, Spain
    Neurobiol Aging 32:547.e11-6. 2011
  9. doi request reprint High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease
    Yaroslau Compta
    Neurosciences Institute, IDIBAPS, CIBERNED, Hospital Clinic, Barcelona, Catalonia, Spain
    Neurosci Lett 487:169-73. 2011
  10. ncbi request reprint No evidence of CRHR1 gene involvement in progressive supranuclear palsy
    Jaume Campdelacreu
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Hospital Clinic Universitari, Barcelona, Spain
    Neurosci Lett 409:61-4. 2006

Collaborators

Detail Information

Publications21

  1. pmc Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism
    E Munoz
    Movemente Disorder Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Villarroel 170, 08036 Barcelona, Spain
    J Neurol Neurosurg Psychiatry 73:582-4. 2002
    ..Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene...
  2. doi request reprint Subclinical nigrostriatal dopaminergic denervation in the cerebellar subtype of multiple system atrophy (MSA-C)
    Esteban Muñoz
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències ICN, Hospital Clinic i Universitari, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Centro de Investigación en Red de Enfermedades Neurodegenerativas CIBERNED, Villarroel 170, 08036, Barcelona, Catalunya, Spain
    J Neurol 258:2248-53. 2011
    ..123)I]FP-CIT SPECT shows that most but not all MSA-C patients without parkinsonism have subclinical nigrostriatal dopaminergic denervation which is not related to disease duration, cerebellar dysfunction, or pontine atrophy...
  3. ncbi request reprint Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy
    Esteban Muñoz
    Neurology Service, Institut Clinic de Malaties del Sistema Nerviós, Hospital Clinic i Universitari, Institut d Investigacions Biomediques August Pi i Sunyer, Brain Bank of the University of Barcelona, Barcelona, Spain
    Arch Neurol 61:946-9. 2004
    ..The pathophysiology of white matter involvement in dentatorubropallidoluysian atrophy (DRPLA) is controversial. Moreover, the clinical repercussions and evolution of these lesions have not been well documented...
  4. doi request reprint Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration
    Carles Gaig
    Department of Neurology, Hospital Clinic i Universitari de Barcelona, Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas, Barcelona, Spain
    J Neurol Sci 270:94-8. 2008
    ....
  5. doi request reprint Grey matter volume correlates of cerebrospinal markers of Alzheimer-pathology in Parkinson's disease and related dementia
    Yaroslau Compta
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències IDIBAPS, Centro de Investigación en Red de Enfermedades Neurodegenerativas, Hospital Clinic, Barcelona, Catalonia, Spain
    Parkinsonism Relat Disord 18:941-7. 2012
    ....
  6. doi request reprint Lack of association of APOE and tau polymorphisms with dementia in Parkinson's disease
    Mario Ezquerra
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clinic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, CIBERNED, Barcelona, Spain
    Neurosci Lett 448:20-3. 2008
    ..The lack of association between the APOE 4 allele and PDD suggests that the pathological process involved in the development of dementia in PD is different from the one that occurs in AD...
  7. ncbi request reprint LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance
    Carles Gaig
    Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clinic, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain
    Arch Neurol 63:377-82. 2006
    ..The R1441G mutation is frequent in Spanish patients of Basque ethnicity with PD, and the G2019S mutation is a common mutation found in several populations worldwide...
  8. doi request reprint Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy
    Mario Ezquerra
    Institut Clínic de Neurociències, Hospital Clinic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Barcelona, Catalonia, Spain
    Neurobiol Aging 32:547.e11-6. 2011
    ..The location of this polymorphism in the 5' regulatory region of MAPT gene suggests the presence of a functional mechanism involved in the variation of MAPT expression levels...
  9. doi request reprint High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease
    Yaroslau Compta
    Neurosciences Institute, IDIBAPS, CIBERNED, Hospital Clinic, Barcelona, Catalonia, Spain
    Neurosci Lett 487:169-73. 2011
    ..Such genetic-CSF endophenotypes are probably a reflection of the presence of AD-like molecular changes in part of PD patients in the setting of dementia...
  10. ncbi request reprint No evidence of CRHR1 gene involvement in progressive supranuclear palsy
    Jaume Campdelacreu
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Hospital Clinic Universitari, Barcelona, Spain
    Neurosci Lett 409:61-4. 2006
    ..Expression pattern of CRHR1 in globus pallidus was similar in all groups. We did not find any coding non-synonymous mutation in the patients analysed. Our results do not support an involvement of CRHR1 gene in PSP pathogenesis...
  11. doi request reprint Cerebrospinal hypocretin, daytime sleepiness and sleep architecture in Parkinson's disease dementia
    Yaroslau Compta
    Movement Disorders Unit, ICN, IDIBAPS, CIBERNED, Hospital Clinic, C Villarroel 170, 08036, Barcelona, Spain
    Brain 132:3308-17. 2009
    ..Alternatively, mechanisms other than hypocretin cells dysfunction may be responsible for excessive daytime sleepiness and the sleep architecture alterations seen in these patients...
  12. ncbi request reprint Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations
    Hatice Kumru
    Neurology Service, Hospital Clínic de Barcelona and Institut d Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Ann Neurol 56:599-603. 2004
    ..In all instances, RBD followed the onset of motor symptoms by several years. Our study shows that RBD is frequent in Park2, suggesting that mechanisms other than synuclein deposition can cause RBD in neurodegenerative disorders...
  13. doi request reprint Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson's disease
    Yaroslau Compta
    Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Centro de Investigación en Red de Enfermedades Neurodegenerativas, Hospital Clinic, Barcelona, Catalonia, Spain
    Mov Disord 24:2203-10. 2009
    ....
  14. ncbi request reprint Tau and saitohin gene expression pattern in progressive supranuclear palsy
    Mario Ezquerra
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociències, Hospital Clinic de Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Villarroel 170, 08036, Barcelona, Spain
    Brain Res 1145:168-76. 2007
    ..Such abnormalities cause an increase in the 4R/3R ratio and may lead to an overexpression of 0N tau isoforms...
  15. ncbi request reprint Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy
    Jaume Campdelacreu
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic Universitari, Villarroel 170, 08036 Barcelona, Spain
    Neurosci Lett 340:158-60. 2003
    ..Our results do not support a pathogenic role of the NIK gene in PSP...
  16. ncbi request reprint Neurophysiological study of facial chorea in patients with Huntington's disease
    Esteban Muñoz
    Unitat d EMG, Servei de Neurologia, ICMSN, Hospital Cli nic of Barcelona, Institut d Investigacio Biomedica August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain
    Clin Neurophysiol 114:1246-52. 2003
    ..In order to further examine the pathophysiology of facial choreic movements (FCM), we carried out a neurophysiological study, including prepulse inhibition of the blink reflex (BR), in HD patients with and without FCM...
  17. ncbi request reprint A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome
    Mario Ezquerra
    Movement Disorders Unit, Department of Neurology, Institut Clinic de Malalties del Sistema Nervios, Hospital Clinic Universitari de Barcelona, Barcelona, Spain
    Arch Neurol 62:306-8. 2005
    ..So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions...
  18. ncbi request reprint Eating-induced facial myoclonic dystonia probably due to a putaminal lesion
    Carles Gaig
    Department of Neurology, Institut Clínic de Neurociències, Hospital Clinic i Universitari, IDIBAPS, Barcelona, Spain
    Mov Disord 22:877-80. 2007
    ....
  19. ncbi request reprint FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening
    Laia Rodriguez-Revenga
    Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain
    Mol Neurobiol 35:324-8. 2007
    ..Early diagnosis of these patients benefits not only them but also the rest of the family that should be advised for the fragile X syndrome...
  20. ncbi request reprint REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph disease
    Alex Iranzo
    Neurology Service, Institut Clinic Malalties del Sistema Nervios, Hospital Clinic Universitari de Barcelona, Spain
    Mov Disord 18:1179-83. 2003
    ..RBD and VCAP are two potentially injurious conditions that should be considered part of the clinical spectrum of MJD...
  21. ncbi request reprint Further extension of the H1 haplotype associated with progressive supranuclear palsy
    Pau Pastor
    Parkinson s Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós Hospital Clínic, IDIBAPS, Barcelona, Spain
    Mov Disord 17:550-6. 2002
    ..These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP...