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Genomes and GenesSpecies | Esteban MuñozSummaryCountry: Spain Publications
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Publications
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonismE 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...
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...
Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsyEsteban 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...- Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degenerationCarles 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.... - LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetranceCarles 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... - Lack of association of APOE and tau polymorphisms with dementia in Parkinson's diseaseMario 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... - Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsyMario 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... - High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson diseaseYaroslau 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... - No evidence of CRHR1 gene involvement in progressive supranuclear palsyJaume 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... - Cerebrospinal hypocretin, daytime sleepiness and sleep architecture in Parkinson's disease dementiaYaroslau 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... - Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutationsHatice 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... - Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson's diseaseYaroslau 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.... - Tau and saitohin gene expression pattern in progressive supranuclear palsyMario 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... - Grey matter volume correlates of cerebrospinal markers of Alzheimer-pathology in Parkinson's disease and related dementiaYaroslau 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.... - Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsyJaume 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... - Neurophysiological study of facial chorea in patients with Huntington's diseaseEsteban 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... - A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndromeMario 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... - Eating-induced facial myoclonic dystonia probably due to a putaminal lesionCarles Gaig
Department of Neurology, Institut Clínic de Neurociències, Hospital Clinic i Universitari, IDIBAPS, Barcelona, Spain
Mov Disord 22:877-80. 2007.... - FXTAS in spanish patients with ataxia: support for female FMR1 premutation screeningLaia 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... - REM sleep behavior disorder and vocal cord paralysis in Machado-Joseph diseaseAlex 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... - Further extension of the H1 haplotype associated with progressive supranuclear palsyPau 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...