about
Epigenetic Research of Neurodegenerative Disorders Using Patient iPSC-Based ModelsRapidly progressive diffuse Lewy body disease.A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease.Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients.Low apolipoprotein E epsilon4 allele frequency in the population of Catalonia (Spain) determined by PCR-RFLP and Laser fluorescent sequencer.Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration.Brain transcriptomic profiling in idiopathic and LRRK2-associated Parkinson's disease.Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease.CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease.5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration.Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration.Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations.A novel MAPT mutation (P301T) associated with familial frontotemporal dementia.Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients.Primary progressive aphasia as the initial manifestation of corticobasal degeneration and unusual tauopathies.Late-onset frontotemporal dementia associated with a novel PGRN mutation.Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.Microarray expression analysis in idiopathic and LRRK2-associated Parkinson's disease.Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.Cerebrospinal tau, phospho-tau, and beta-amyloid and neuropsychological functions in Parkinson's disease.A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.Alpha-antichymotrypsin gene polymorphism and risk for Alzheimer's disease in the Spanish population.High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease.Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease.Age at onset in LRRK2-associated PD is modified by SNCA variants.Exhaustion of mitochondrial and autophagic reserve may contribute to the development of LRRK2 G2019S -Parkinson's disease.Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusionsMTOR Pathway-Based Discovery of Genetic Susceptibility to L-DOPA-Induced Dyskinesia in Parkinson's Disease PatientsFurther extension of the H1 haplotype associated with progressive supranuclear palsyReply
P50
Q26772307-165CBBDD-AEB3-4858-8194-D0CCC03A41AAQ33870090-8567411E-DC04-42CA-9BD2-8BEEE25EDDA7Q35465346-044832E2-7628-4D2F-93AF-0D4517C07B32Q35534253-D7062220-6B80-4AB5-9C1A-D0D99EA61B5DQ35679526-3D843544-FF4D-46E6-BA47-1E262FE23BBCQ36410154-15A39D4E-6BE1-486D-B126-54B494F92B6BQ36893398-B4F5DC07-6948-48CC-8A8E-D09CB54E88E5Q38391502-BD600340-DBFB-4A18-88D1-3498C2BAACDDQ38496902-5C70FD5F-12D0-4F31-A234-3F87265F8BCFQ39227299-01CDBEC1-EB4E-4530-8F18-50C983114E2EQ39293214-FA89FF65-392A-4993-82ED-BFE1732AF0D7Q41512301-84582B64-A111-411D-9514-AE3C31B97625Q41964090-AFBCBA64-6A51-4C0F-80A3-8CDE126DC071Q42445241-0E6402AC-B7C3-414D-8A4B-4DED1EC2A0BEQ42465754-38AC08EE-B23A-4B56-9D92-FC8038B66361Q45244020-1F076F92-C465-471C-B00C-CE1E31AC5590Q46692408-B1845AA2-A79B-4DC3-BA12-69E9B66F6D6DQ46830133-00BD709E-3955-43E5-9D16-AA6207519D49Q48091804-025D1385-3F7D-403D-A310-14B31AB0B616Q48092074-33C5F977-1CF6-4CD1-9CC9-308C0504BB95Q48207960-C00A58EF-45FF-4953-8768-5E5E889D6D94Q48212148-4D2A2101-337E-425E-A672-08B9EF66D8F7Q48513862-C6B19167-E935-4DEB-B1EA-74C0988AC29DQ48880337-206F7075-F1B1-454C-B6D7-2927E4DC458AQ50594096-FC976D7C-AD96-486A-9A78-FCF87E7E0C74Q50596072-95A2B7DA-16F6-45FF-9F47-FBA0D35B6944Q51969545-0DAACB3A-8D36-492D-941E-D1A506646BFDQ53209404-A8A4E4B2-6EB3-4C8E-A03B-32A9FA8AD324Q53246312-BA78D8C8-A256-4BDC-AF3F-99D71C48CDA7Q53251607-FAF1280D-1E92-43A0-88BD-78F0F152010DQ53256058-B03EC885-E93B-4091-BBB4-CE1833D166FCQ53328886-86AF5309-60F9-4315-8C00-BB300EC4DDE0Q53417457-45A384AB-99B7-4CC0-B5CB-894A5D8A5505Q54403050-30A11FDC-70DF-4502-B5A0-38F8E2BC01A0Q54506455-C90A4B78-A9ED-45B1-B721-8C6074D5A000Q54976661-3BB47742-FD2D-433C-B42E-584CDF1EB6BAQ56895087-7DE1C9A7-288D-4B33-8F58-7B596731823EQ57176638-27969BE1-EEBA-451C-AB4C-5ABC3953493CQ57814754-4E7124BC-973B-44C1-97B6-39806C0E0C67Q60566929-E17AA6BD-A58B-4FE6-9ABF-377CCFCF1ADF
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Mario Ezquerra
@ast
Mario Ezquerra
@en
Mario Ezquerra
@es
Mario Ezquerra
@nl
Mario Ezquerra
@sl
type
label
Mario Ezquerra
@ast
Mario Ezquerra
@en
Mario Ezquerra
@es
Mario Ezquerra
@nl
Mario Ezquerra
@sl
prefLabel
Mario Ezquerra
@ast
Mario Ezquerra
@en
Mario Ezquerra
@es
Mario Ezquerra
@nl
Mario Ezquerra
@sl
P1053
E-3723-2019
P106
P1153
6603683564
P21
P2798
P31
P496
0000-0003-3246-6641