Pau Pastor - Publications

Affiliations: 
 

187 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Shen Y, Timsina J, Heo G, Beric A, Ali M, Wang C, Yang C, Wang Y, Western D, Liu M, Gorijala P, Budde J, Do A, Liu H, Gordon B, ... ... Pastor P, et al. CSF proteomics identifies early changes in autosomal dominant Alzheimer's disease. Cell. PMID 39332414 DOI: 10.1016/j.cell.2024.08.049  0.631
2024 Landoulsi Z, Sreelatha AAK, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Pavelka L, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, ... ... Pastor P, et al. Genome-wide association study of copy number variations in Parkinson's disease. Medrxiv : the Preprint Server For Health Sciences. PMID 39228715 DOI: 10.1101/2024.08.21.24311915  0.335
2024 Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, ... ... Pastor P, et al. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. Molecular Neurodegeneration. 19: 61. PMID 39152475 DOI: 10.1186/s13024-024-00747-3  0.609
2024 Marsh TW, Western D, Timsina J, Gorijala P, Yang C, Pastor P, Liu M, Morris JC, Bateman RJ, Schindler SE, Sung YJ, Cruchaga C. A genetic and proteomic comparison of key AD biomarkers across tissues. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 39077866 DOI: 10.1002/alz.14139  0.814
2024 Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, ... ... Pastor P, et al. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. American Journal of Human Genetics. PMID 38889728 DOI: 10.1016/j.ajhg.2024.05.017  0.76
2024 Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, ... ... Pastor P, et al. Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron. PMID 38701790 DOI: 10.1016/j.neuron.2024.04.002  0.497
2024 Do AN, Ali M, Timsina J, Wang L, Western D, Liu M, Sanford J, Rosende-Roca M, Boada M, Puerta R, Wilson T, Ruiz A, Pastor P, Wyss-Coray T, Cruchaga C, et al. CSF proteomic profiling with amyloid/tau positivity identifies distinctive sex-different alteration of multiple proteins involved in Alzheimer's disease. Medrxiv : the Preprint Server For Health Sciences. PMID 38559166 DOI: 10.1101/2024.03.15.24304164  0.62
2024 Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, ... ... Pastor P, et al. Genotype-phenotype correlation in PRKN-associated Parkinson's disease. Npj Parkinson's Disease. 10: 72. PMID 38553467 DOI: 10.1038/s41531-024-00677-3  0.313
2024 Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, ... ... Pastor P, et al. Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and Sub-haplotypes. Medrxiv : the Preprint Server For Health Sciences. PMID 38464214 DOI: 10.1101/2024.02.26.24303379  0.503
2024 García-Alberca JM, de Rojas I, Sanchez-Mejias E, Garrido-Martín D, Gonzalez-Palma L, Jimenez S, Pino-Angeles A, Cruz-Gamero JM, Mendoza S, Alarcón-Martín E, Muñoz-Castro C, Real LM, Tena JJ, Polvillo R, Govantes F, ... ... Pastor P, et al. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response. Journal of Alzheimer's Disease : Jad. PMID 38427484 DOI: 10.3233/JAD-231150  0.35
2024 Pérez-Oliveira S, Castilla-Silgado J, Painous C, Aldecoa I, Menéndez-González M, Blázquez-Estrada M, Corte D, Tomás-Zapico C, Compta Y, Muñoz E, Lladó A, Balasa M, Aragonès G, García-González P, Rosende-Roca M, ... ... Pastor P, et al. Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights. Brain Pathology (Zurich, Switzerland). e13250. PMID 38418081 DOI: 10.1111/bpa.13250  0.403
2024 Cruchaga C, Ali M, Shen Y, Do A, Wang L, Western D, Liu M, Beric A, Budde J, Gentsch J, Schindler S, Morris J, Holtzman D, Fernández M, Ruiz A, ... ... Pastor P, et al. Multi-cohort cerebrospinal fluid proteomics identifies robust molecular signatures for asymptomatic and symptomatic Alzheimer's disease. Research Square. PMID 38410465 DOI: 10.21203/rs.3.rs-3631708/v1  0.8
2024 Shen Y, Ali M, Timsina J, Wang C, Do A, Western D, Liu M, Gorijala P, Budde J, Liu H, Gordon B, McDade E, Morris JC, Llibre-Guerra JJ, Bateman RJ, ... ... Pastor P, et al. Systematic proteomics in Autosomal dominant Alzheimer's disease reveals decades-early changes of CSF proteins in neuronal death, and immune pathways. Medrxiv : the Preprint Server For Health Sciences. PMID 38260583 DOI: 10.1101/2024.01.12.24301242  0.81
2024 Wang L, Nykänen NP, Western D, Gorijala P, Timsina J, Li F, Wang Z, Ali M, Yang C, Liu M, Brock W, Marquié M, Boada M, Alvarez I, Aguilar M, ... Pastor P, et al. Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease. Molecular Neurodegeneration. 19: 1. PMID 38172904 DOI: 10.1186/s13024-023-00687-4  0.839
2023 Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, ... ... Pastor P, et al. Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy. Medrxiv : the Preprint Server For Health Sciences. PMID 38234807 DOI: 10.1101/2023.12.28.23300612  0.676
2023 Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, ... ... Pastor P, et al. Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by subtypes. Proceedings of the National Academy of Sciences of the United States of America. 120: e2302720120. PMID 37643212 DOI: 10.1073/pnas.2302720120  0.417
2023 Phillips B, Western D, Wang L, Timsina J, Sun Y, Gorijala P, Yang C, Do A, Nykänen NP, Alvarez I, Aguilar M, Pastor P, Morris JC, Schindler SE, Fagan AM, et al. Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease. Npj Parkinson's Disease. 9: 107. PMID 37422510 DOI: 10.1038/s41531-023-00555-4  0.805
2023 Cruchaga C, Western D, Timsina J, Wang L, Wang C, Yang C, Ali M, Beric A, Gorijala P, Kohlfeld P, Budde J, Levey A, Morris J, Perrin R, Ruiz A, ... ... Pastor P, et al. Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and informs causal proteins for Alzheimer's disease. Research Square. PMID 37333337 DOI: 10.21203/rs.3.rs-2814616/v1  0.833
2023 Wang C, Western D, Yang C, Ali M, Wang L, Gorijala P, Timsina J, Ruiz A, Pastor P, Fernandez M, Panyard D, Engelman C, Deming Y, Boada M, Cano A, et al. Unique genetic architecture of CSF and brain metabolites pinpoints the novel targets for the traits of human wellness. Research Square. PMID 37333177 DOI: 10.21203/rs.3.rs-2923409/v1  0.787
2023 Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Augé A, Olaso R, Deleuze JF, Lesueur F, ... ... Pastor P, et al. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 36788297 DOI: 10.1002/mds.29337  0.317
2023 de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, ... ... Pastor P, et al. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications. 14: 716. PMID 36759603 DOI: 10.1038/s41467-023-36192-x  0.329
2023 García-González P, de Rojas I, Moreno-Grau S, Montrreal L, Puerta R, Alarcón-Martín E, Quintela I, Orellana A, Andrade V, Adami PVM, Heilmann-Heimbach S, Gomez-Garre P, Periñán MT, Alvarez I, Diez-Fairen M, ... ... Pastor P, et al. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men. International Journal of Molecular Sciences. 24. PMID 36674414 DOI: 10.3390/ijms24020898  0.385
2022 Jiménez-Jiménez FJ, Gómez-Tabales J, Alonso-Navarro H, Rodríguez C, Turpín-Fenoll L, Millán-Pascual J, Álvarez I, Pastor P, Calleja M, García-Ruiz R, Navarro-Muñoz S, Recio-Bermejo M, Plaza-Nieto JF, García-Albea E, García-Martín E, et al. Genes Variants and the Risk for Restless Legs Syndrome. International Journal of Molecular Sciences. 23. PMID 36499121 DOI: 10.3390/ijms232314795  0.332
2022 Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, ... ... Pastor P, et al. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nature Genetics. PMID 36411364 DOI: 10.1038/s41588-022-01208-7  0.79
2022 García-Martín E, Pastor P, Gómez-Tabales J, Alonso-Navarro H, Alvarez I, Buongiorno M, Cerezo-Arias MLO, Aguilar M, Agúndez JAG, Jiménez-Jiménez FJ. Association between LAG3/CD4 gene variants and risk of Parkinson's disease. European Journal of Clinical Investigation. 52: e13847. PMID 36224715 DOI: 10.1111/eci.13847  0.33
2022 Jansen IE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Küçükali F, Sung YJ, Tesí N, ... ... Pastor P, et al. Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers. Acta Neuropathologica. PMID 36066633 DOI: 10.1007/s00401-022-02454-z  0.705
2022 Timsina J, Gomez-Fonseca D, Wang L, Do A, Western D, Alvarez I, Aguilar M, Pastor P, Henson RL, Herries E, Xiong C, Schindler SE, Fagan AM, Bateman RJ, Farlow M, et al. Comparative Analysis of Alzheimer's Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach. Journal of Alzheimer's Disease : Jad. PMID 35871346 DOI: 10.3233/JAD-220399  0.6
2022 Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, ... ... Pastor P, et al. Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease. Jama Neurology. PMID 35639372 DOI: 10.1001/jamaneurol.2022.1166  0.421
2022 Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, ... ... Pastor P, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics. PMID 35379992 DOI: 10.1038/s41588-022-01024-z  0.789
2022 Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, ... ... Pastor P, et al. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 34997937 DOI: 10.1002/mds.28902  0.323
2021 de Rojas I, Hernández I, Montrreal L, Quintela I, Calero M, Royo JL, Huerto Vilas R, González-Pérez A, Franco-Macías E, Macías J, Menéndez-González M, Frank-García A, Diez-Fairen M, Lage C, García-Madrona S, ... ... Pastor P, et al. Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study. Journal of Personalized Medicine. 11. PMID 34945790 DOI: 10.3390/jpm11121318  0.382
2021 de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, ... ... Pastor P, et al. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications. 12: 3417. PMID 34099642 DOI: 10.1038/s41467-021-22491-8  0.431
2021 Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard H, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, ... ... Pastor P, et al. Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology. PMID 33901317 DOI: 10.1002/ana.26090  0.479
2021 Moreno-Grau S, Fernández MV, de Rojas I, Garcia-González P, Hernández I, Farias F, Budde JP, Quintela I, Madrid L, González-Pérez A, Montrreal L, Alarcón-Martín E, Alegret M, Maroñas O, Pineda JA, et al. Long runs of homozygosity are associated with Alzheimer's disease. Translational Psychiatry. 11: 142. PMID 33627629 DOI: 10.1038/s41398-020-01145-1  0.745
2021 Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, ... ... Pastor P, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics. PMID 33589841 DOI: 10.1038/s41588-021-00785-3  0.701
2020 Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA, ... ... Pastor P, et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders. 82: 109-116. PMID 33279834 DOI: 10.1016/j.parkreldis.2020.11.021  0.779
2020 Álvarez I, Diez-Fairen M, Aguilar M, González JM, Ysamat M, Tartari JP, Carcel M, Alonso A, Brix B, Arendt P, Pastor P. Added value of CSF multi-marker analysis in diagnosis and progression of dementia. European Journal of Neurology. PMID 33236496 DOI: 10.1111/ene.14658  0.315
2020 Ibanez L, Bahena JA, Yang C, Dube U, Farias FHG, Budde JP, Bergmann K, Brenner-Webster C, Morris JC, Perrin RJ, Cairns NJ, O'Donnell J, Álvarez I, Diez-Fairen M, Aguilar M, ... ... Pastor P, et al. Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease. Acta Neuropathologica Communications. 8: 196. PMID 33213513 DOI: 10.1186/s40478-020-01072-8  0.797
2020 Rosas I, Martínez C, Coto E, Clarimón J, Lleó A, Illán-Gala I, Dols-Icardo O, Borroni B, Almeida MR, van der Zee J, Van Broeckhoven C, Bruni AC, Anfossi M, Bernardi L, ... ... Pastor P, et al. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of Aging. PMID 32972771 DOI: 10.1016/J.Neurobiolaging.2020.08.018  0.474
2020 Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M, Alvarez I, Alvarez V, Andreassen O, Anfossi M, Bagnoli S, Benussi L, Bernardi L, Binetti G, Blackburn D, Boada M, ... ... Pastor P, et al. , AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts. Neurology. PMID 32943482 DOI: 10.1212/Wnl.0000000000010914  0.654
2020 Lidón L, Urrea L, Llorens F, Gil V, Alvarez I, Diez-Fairen M, Aguilar M, Pastor P, Zerr I, Alcolea D, Lleó A, Vidal E, Gavín R, Ferrer I, Del Rio JA. Disease-Specific Changes in Reelin Protein and mRNA in Neurodegenerative Diseases. Cells. 9. PMID 32438605 DOI: 10.3390/Cells9051252  0.45
2020 Santos-García D, de Deus Fonticoba T, Suárez Castro E, Aneiros Díaz A, McAfee D, Catalán MJ, Alonso-Frech F, Villanueva C, Jesús S, Mir P, Aguilar M, Pastor P, García Caldentey J, Esltelrich Peyret E, Planellas LL, et al. Non-motor symptoms burden is strongly correlated to motor complications in Parkinson´s disease patients. European Journal of Neurology. PMID 32181979 DOI: 10.1111/Ene.14221  0.303
2020 Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, ... ... Pastor P, et al. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications. 8: 5. PMID 31996268 DOI: 10.1186/S40478-020-0879-Z  0.632
2020 van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, ... ... Pastor P, et al. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. PMID 31955222 DOI: 10.1007/s00401-019-02107-8  0.392
2019 Rosas I, Martínez C, Clarimón J, Lleó A, Illán-Gala I, Dols-Icardo O, Borroni B, Almeida MR, van der Zee J, Van Broeckhoven C, Bruni AC, Anfossi M, Bernardi L, Maletta R, Serpente M, ... ... Pastor P, et al. Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. Neurobiology of Aging. PMID 31810584 DOI: 10.1016/J.Neurobiolaging.2019.10.017  0.479
2019 Ashton NJ, Suárez-Calvet M, Heslegrave A, Hye A, Razquin C, Pastor P, Sanchez-Valle R, Molinuevo JL, Visser PJ, Blennow K, Hodges AK, Zetterberg H. Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers. Alzheimer's Research & Therapy. 11: 94. PMID 31779670 DOI: 10.1186/S13195-019-0545-5  0.44
2019 Santos-García D, de Deus Fonticoba T, Suárez Castro E, Aneiros Díaz A, Paz González JM, Feal Panceiras MJ, García Sancho C, Jesús S, Mir P, Aguilar M, Pastor P, Hernández Vara J, de Fábregues-Boixar O, Puente V, Crespo Cuevas A, et al. High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson's disease patients. Journal of Neural Transmission (Vienna, Austria : 1996). 126: 1599-1608. PMID 31673927 DOI: 10.1007/S00702-019-02096-8  0.321
2019 Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, ... ... Pastor P, et al. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31660654 DOI: 10.1002/Mds.27864  0.407
2019 Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, Hernández-Olasagarre B, Madrid L, González-Perez A, Maroñas O, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Abdelnour C, et al. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 31473137 DOI: 10.1016/J.Jalz.2019.06.4950  0.535
2019 Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, ... ... Pastor P, et al. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Human Mutation. PMID 31464095 DOI: 10.1002/Humu.23904  0.474
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Pastor P, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. PMID 31417202 DOI: 10.1038/s41588-019-0495-7  0.818
2019 Ahmed S, Fairen MD, Sabir MS, Pastor P, Ding J, Ispierto L, Butala A, Morris CM, Schulte C, Gasser T, Jabbari E, Pletnikova O, Morris HR, Troncoso J, Gelpi E, et al. p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics. 5: e347. PMID 31404212 DOI: 10.1212/Nxg.0000000000000347  0.435
2019 van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, ... ... Pastor P, et al. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. PMID 31131421 DOI: 10.1007/S00401-019-02026-8  0.533
2019 Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P. Genome-wide estimates of heritability and genetic correlations in essential tremor. Parkinsonism & Related Disorders. PMID 31085086 DOI: 10.1016/J.Parkreldis.2019.05.002  0.398
2019 Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, ... ... Pastor P, et al. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease. PMID 30953760 DOI: 10.1016/J.Nbd.2019.04.004  0.613
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Pastor P, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. 51: 414-430. PMID 30820047 DOI: 10.1038/s41588-019-0358-2  0.836
2019 Alvarez I, Brix B, Diez-Fairen M, Gonzalez JM, Ysamat M, Pastor P. P1-260: ALZHEIMER'S DISEASE CSF BIOMARKERS VALIDATION WITH FLORBETAPIR PET USING NOVEL EUROIMMUN'S Aβ 1-42 ADJUSTED VALUES Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.815  0.442
2018 García-Martín E, Diez-Fairen M, Pastor P, Gómez-Tabales J, Alonso-Navarro H, Alvarez I, Cárcel M, Aguilar M, Agúndez JAG, Jiménez-Jiménez FJ. Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women. Journal of Neurology. PMID 30483881 DOI: 10.1007/S00415-018-9136-9  0.346
2018 Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, ... ... Pastor P, et al. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging. PMID 30448004 DOI: 10.1016/J.Neurobiolaging.2018.10.019  0.591
2018 Ariz M, Abad RC, Castellanos G, Martinez M, Munoz-Barrutia A, Fernandez-Seara MA, Pastor P, Pastor MA, Ortiz-de-Solorzano C. Dynamic Atlas-based segmentation and quantification of Neuromelanin-rich brainstem structures in Parkinson disease. Ieee Transactions On Medical Imaging. PMID 30281440 DOI: 10.1109/Tmi.2018.2872852  0.314
2018 Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, ... ... Pastor P, et al. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a Journal of Neurology. PMID 30252044 DOI: 10.1093/Brain/Awy238  0.53
2018 Ramos-Campoy O, Ávila-Polo R, Grau-Rivera O, Antonell A, Clarimón J, Rojas-García R, Charif S, Santiago-Valera V, Hernandez I, Aguilar M, Almenar C, Lopez-Villegas D, Bajo L, Pastor P, Van der Zee J, et al. Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation. Journal of Neuropathology and Experimental Neurology. PMID 29889265 DOI: 10.1093/Jnen/Nly047  0.384
2018 Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P. Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population. Neurobiology of Aging. PMID 29887346 DOI: 10.1016/J.Neurobiolaging.2018.05.008  0.78
2018 Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, ... ... Pastor P, et al. No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients. Neurobiology of Aging. PMID 29886022 DOI: 10.1016/J.Neurobiolaging.2018.05.005  0.4
2018 Jiménez-Jiménez FJ, Esguevillas G, Alonso-Navarro H, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Amo G, Rojo-Sebastián A, Rubio L, Díez-Fairén M, Pastor P, Calleja M, et al. Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome. The Pharmacogenomics Journal. PMID 29720720 DOI: 10.1038/S41397-018-0023-7  0.346
2018 Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA. Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. Frontiers in Neuroscience. 12: 230. PMID 29692703 DOI: 10.3389/Fnins.2018.00230  0.802
2018 Philtjens S, Van Mossevelde S, van der Zee J, Wauters E, Dillen L, Vandenbulcke M, Vandenberghe R, Ivanoiu A, Sieben A, Willems C, Benussi L, Ghidoni R, Binetti G, Borroni B, Padovani A, ... Pastor P, et al. Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia. Neurobiology of Aging. PMID 29555433 DOI: 10.1016/J.Neurobiolaging.2018.02.011  0.436
2018 Razquin C, Ortega-Cubero S, Rojo-Bustamante E, Diez-Fairen M, Lorenzo E, Alonso E, Ezquerra M, Ross OA, Carcel M, Lorenzo-Betancor O, Soto AI, Burgess JD, Ertekin-Taner N, Dickson DW, Pastor MA, ... ... Pastor P, et al. Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants. Neurobiology of Aging. PMID 29398119 DOI: 10.1016/J.Neurobiolaging.2017.12.026  0.434
2018 Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, ... ... Pastor P, et al. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. The Lancet. Neurology. 17: 64-74. PMID 29263008 DOI: 10.1016/S1474-4422(17)30400-3  0.57
2017 Álvarez I, Aguilar M, González JM, Ysamat M, Lorenzo-Bosquet C, Alonso A, Tartari JP, Romero S, Diez-Fairen M, Carcel M, Pujalte F, Pastor P. Clinic-Based Validation of Cerebrospinal Fluid Biomarkers with Florbetapir PET for Diagnosis of Dementia. Journal of Alzheimer's Disease : Jad. PMID 29154286 DOI: 10.3233/Jad-170753  0.406
2017 Verheijen J, van der Zee J, Gijselinck I, Van den Bossche T, Dillen L, Heeman B, Gómez-Tortosa E, Lladó A, Sanchez-Valle R, Graff C, Pastor P, Pastor MA, Benussi L, Ghidoni R, Binetti G, et al. Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort. Neurobiology of Aging. PMID 29146049 DOI: 10.1016/J.Neurobiolaging.2017.10.012  0.506
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Pastor P, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916  0.834
2017 Gendron TF, Daughrity LM, Heckman MG, Diehl NN, Wuu J, Miller TM, Pastor P, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Benatar M, Silani V, Glass JD, et al. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Annals of Neurology. PMID 28628244 DOI: 10.1002/Ana.24980  0.338
2017 De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, ... ... Pastor P, et al. Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease. Acta Neuropathologica. PMID 28447221 DOI: 10.1007/S00401-017-1714-X  0.43
2017 Agúndez JA, García-Martín E, Alonso-Navarro H, Ayuso P, Esguevillas G, Benito-León J, Ortega-Cubero S, Pastor P, López-Alburquerque T, Jiménez-Jiménez FJ. Delta-amino-levulinic acid dehydratase gene and essential tremor. European Journal of Clinical Investigation. PMID 28276576 DOI: 10.1111/Eci.12742  0.35
2017 Deming Y, Kapoor M, Li Z, Harari O, Black K, Del-Aguila JL, Carrell D, Cai Y, Fernandez MV, Budde JP, Ma S, Saef B, Howells B, Huang K, Bertelsen S, ... ... Pastor P, et al. CEREBROSPINAL FLUID ENDOPHENOTYPES PROVIDE INSIGHT INTO BIOLOGY UNDERLYING ALZHEIMER'S DISEASE Alzheimer's & Dementia. 13: P218-P219. DOI: 10.1016/J.Jalz.2017.07.096  0.789
2016 Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Martínez C, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Rojo-Sebastián A, Rubio L, Ortega-Cubero S, Pastor P, Calleja M, et al. Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome. Journal of Neural Transmission (Vienna, Austria : 1996). PMID 27837280 DOI: 10.1007/S00702-016-1645-Z  0.397
2016 Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman J, Sheerin UM, Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, et al. Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population. Neurobiology of Aging. PMID 27818000 DOI: 10.1016/J.Neurobiolaging.2016.10.004  0.423
2016 Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, ... ... Pastor P, et al. Genome-wide association study in essential tremor identifies three new loci. Brain : a Journal of Neurology. PMID 27797806 DOI: 10.1093/Brain/Aww242  0.41
2016 Kun-Rodrigues C, Ross OA, Orme T, Shepherd C, Parkkinen L, Darwent L, Hernandez D, Ansorge O, Clark LN, Honig LS, Marder K, Lemstra A, Scheltens P, van der Flier W, Louwersheimer E, ... ... Pastor P, et al. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging. PMID 27666590 DOI: 10.1016/J.Neurobiolaging.2016.08.023  0.402
2016 Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Lorenzo-Betancor O, Ortega-Cubero S, Pastor P, Calleja M, Agúndez JA. A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor. Neurological Research. 1-8. PMID 27456607 DOI: 10.1080/01616412.2016.1210355  0.37
2016 Luis E, Ortiz A, Eudave L, Ortega-Cubero S, Borroni B, van der Zee J, Gazzina S, Caroppo P, Rubino E, D'Agata F, Le Ber I, Santana I, Cunha G, Almeida MR, Boutoleau-Bretonnière C, ... ... Pastor P, et al. Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations. Journal of Alzheimer's Disease : Jad. PMID 27163810 DOI: 10.3233/Jad-160006  0.402
2016 Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C. Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease. Molecular Neurodegeneration. 11: 29. PMID 27094865 DOI: 10.1186/S13024-016-0097-0  0.815
2016 Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, et al. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Acta Neuropathologica. PMID 27026413 DOI: 10.1007/S00401-016-1566-9  0.51
2016 Agúndez JA, García-Martín E, Martínez C, Benito-León J, Millán-Pascual J, Díaz-Sánchez M, Calleja P, Pisa D, Turpín-Fenoll L, Alonso-Navarro H, Pastor P, Ortega-Cubero S, Ayuso-Peralta L, Torrecillas D, García-Albea E, et al. Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Multiple Sclerosis. Scientific Reports. 6: 20830. PMID 26868429 DOI: 10.1038/Srep20830  0.34
2015 Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, de Munain AL, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, et al. Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiology of Aging. PMID 26675813 DOI: 10.1016/J.Neurobiolaging.2015.10.030  0.355
2015 Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, ... ... Pastor P, et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging. PMID 26643944 DOI: 10.1016/J.Neurobiolaging.2015.10.028  0.619
2015 Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, Martínez C, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Rojo-Sebastián A, Rubio L, Ortega-Cubero S, Pastor P, Calleja M, et al. Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population. Medicine. 94: e2125. PMID 26632733 DOI: 10.1097/Md.0000000000002125  0.353
2015 Cervera-Carles L, Pagonabarraga J, Pascual-Sedano B, Pastor P, Campolongo A, Fortea J, Blesa R, Alcolea D, Morenas-Rodríguez E, Sala I, Lleó A, Kulisevsky J, Clarimón J. Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26453547 DOI: 10.1002/Ajmg.B.32390  0.442
2015 Pastor P, Moreno F, Clarimón J, Ruiz A, Combarros O, Calero M, López de Munain A, Bullido MJ, de Pancorbo MM, Carro E, Antonell A, Coto E, Ortega-Cubero S, Hernandez I, Tárraga L, et al. MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium. Journal of Alzheimer's Disease : Jad. PMID 26444794 DOI: 10.3233/Jad-150555  0.513
2015 Cacace R, Van den Bossche T, Engelborghs S, Geerts N, Laureys A, Dillen L, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, Diehl-Schmid J, Alexopoulos P, Benussi L, et al. Rare Variants in PLD3 do not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort. Human Mutation. PMID 26411346 DOI: 10.1002/Humu.22908  0.51
2015 García-Martín E, Jiménez-Jiménez FJ, Alonso-Navarro H, Martínez C, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Rojo-Sebastián A, Rubio L, Ortega-Cubero S, Pastor P, Calleja M, et al. Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome. Medicine. 94: e1448. PMID 26313808 DOI: 10.1097/Md.0000000000001448  0.387
2015 Ayuso P, Agúndez JA, Alonso-Navarro H, Martínez C, Benito-León J, Ortega-Cubero S, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, García-Martín E, Jiménez-Jiménez FJ. Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor. Medicine. 94: e968. PMID 26091465 DOI: 10.1097/Md.0000000000000968  0.422
2015 Cuyvers E, van der Zee J, Bettens K, Engelborghs S, Vandenbulcke M, Robberecht C, Dillen L, Merlin C, Geerts N, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, et al. Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study. Neurobiology of Aging. 36: 2005.e15-22. PMID 25796131 DOI: 10.1016/J.Neurobiolaging.2015.02.014  0.541
2015 Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, ... ... Pastor P, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry. PMID 25778476 DOI: 10.1038/Mp.2015.23  0.826
2015 Castellanos G, Fernández-Seara MA, Lorenzo-Betancor O, Ortega-Cubero S, Puigvert M, Uranga J, Vidorreta M, Irigoyen J, Lorenzo E, Muñoz-Barrutia A, Ortiz-de-Solorzano C, Pastor P, Pastor MA. Automated Neuromelanin Imaging as a Diagnostic Biomarker for Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 945-52. PMID 25772492 DOI: 10.1002/Mds.26201  0.38
2015 Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, ... ... Pastor P, et al. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. European Journal of Human Genetics : Ejhg. PMID 25604855 DOI: 10.1038/Ejhg.2014.300  0.457
2015 Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ, Ross OA, Wurster I, Mielke C, Lin JJ, Coria F, Clarimon J, Ezquerra M, Brighina L, Annesi G, Alonso-Navarro H, ... ... Pastor P, et al. TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study. Parkinsonism & Related Disorders. 21: 306-9. PMID 25585992 DOI: 10.1016/J.Parkreldis.2014.12.010  0.462
2015 Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E, Oterino-Durán A, Toriello M, Quintáns B, Camiña-Tato M, Sesar A, Vega A, Sobrido MJ, Salas A. No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 54-65. PMID 25349034 DOI: 10.1002/Ajmg.B.32276  0.484
2015 Ortega-Cubero S, Pagola I, Luquin M, Viteri C, Pastor P, Gállego Pérez-Larraya J, de Castro P, Domínguez I, Irimia P, Martínez-Vila E, Arbizu J, Riverol M. Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study Neurología (English Edition). 30: 144-152. DOI: 10.1016/J.Nrleng.2013.12.009  0.326
2015 Sleegers K, Verheijen J, Zee Jvd, Bettens K, Engelborghs S, Vandenbulcke M, Sanchez-Valle R, Benussi L, Mendonça Ad, Pastor P, Graff C, Borroni B, Vandenberghe R, Deyn PPD, Broeckhoven CV. Targeted re-sequencing of sorl1 in early-onset Alzheimer’s dementia: The european early onset dementia consortium Alzheimers & Dementia. 11: 253. DOI: 10.1016/J.Jalz.2015.07.484  0.34
2015 Ramirez A, Karsak M, Thelen M, Glebov K, Nagler M, Rading S, Thiele H, Lernnarz M, Jessen F, Maier W, Nuernberg P, Pastor P, Walter J. Functional characterization of a novel TREM2 coding variant linked to familial Alzheimer’s disease Alzheimers & Dementia. 11: 500. DOI: 10.1016/J.Jalz.2015.06.585  0.356
2014 Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbé C, Vilariño-Güell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA. Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor. Plos One. 9: e111989. PMID 25375143 DOI: 10.1371/Journal.Pone.0111989  0.335
2014 Ayuso P, Martínez C, Pastor P, Lorenzo-Betancor O, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Agúndez JA, García-Martín E. An association study between Heme oxygenase-1 genetic variants and Parkinson's disease. Frontiers in Cellular Neuroscience. 8: 298. PMID 25309329 DOI: 10.3389/Fncel.2014.00298  0.439
2014 Thelen M, Razquin C, Hernández I, Gorostidi A, Sánchez-Valle R, Ortega-Cubero S, Wolfsgruber S, Drichel D, Fliessbach K, Duenkel T, Damian M, Heilmann S, Slotosch A, Lennarz M, Seijo-Martínez M, ... ... Pastor P, et al. Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes. Neurobiology of Aging. 35: 2657.e13-9. PMID 25042114 DOI: 10.1016/J.Neurobiolaging.2014.06.018  0.468
2014 Luis EO, Ortega-Cubero S, Lamet I, Razquin C, Cruchaga C, Benitez BA, Lorenzo E, Irigoyen J, Pastor MA, Pastor P. Frontobasal gray matter loss is associated with the TREM2 p.R47H variant. Neurobiology of Aging. 35: 2681-90. PMID 25027412 DOI: 10.1016/J.Neurobiolaging.2014.06.007  0.782
2014 Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, ... ... Pastor P, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics. 23: 6139-46. PMID 24973356 DOI: 10.1093/Hmg/Ddu334  0.638
2014 Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... Pastor P, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1  0.721
2014 Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, ... ... Pastor P, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Plos One. 9: e94661. PMID 24922517 DOI: 10.1371/Journal.Pone.0094661  0.835
2014 van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Mat?j R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, ... ... Pastor P, et al. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathologica. 128: 397-410. PMID 24899140 DOI: 10.1007/S00401-014-1298-7  0.408
2014 Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, ... ... Pastor P, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/Nature12825  0.805
2014 Dols-Icardo O, García-Redondo A, Rojas-García R, Sánchez-Valle R, Noguera A, Gómez-Tortosa E, Pastor P, Hernández I, Esteban-Pérez J, Suárez-Calvet M, Antón-Aguirre S, Amer G, Ortega-Cubero S, Blesa R, Fortea J, et al. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Human Molecular Genetics. 23: 749-54. PMID 24057670 DOI: 10.1093/Hmg/Ddt460  0.339
2014 Ruiz A, Dols-Icardo O, Bullido MJ, Pastor P, Rodríguez-Rodríguez E, López de Munain A, de Pancorbo MM, Pérez-Tur J, Alvarez V, Antonell A, López-Arrieta J, Hernández I, Tárraga L, Boada M, Lleó A, et al. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. Neurobiology of Aging. 35: 444.e1-4. PMID 24041969 DOI: 10.1016/J.Neurobiolaging.2013.08.011  0.526
2013 Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, ... ... Pastor P, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics. 45: 1452-8. PMID 24162737 DOI: 10.1038/Ng.2802  0.836
2013 Rubio-Moscardo F, Setó-Salvia N, Pera M, Bosch-Morató M, Plata C, Belbin O, Gené G, Dols-Icardo O, Ingelsson M, Helisalmi S, Soininen H, Hiltunen M, Giedraitis V, Lannfelt L, Frank A, ... ... Pastor P, et al. Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis. Plos One. 8: e74203. PMID 24069280 DOI: 10.1371/Journal.Pone.0074203  0.42
2013 Pastor P. Comment: double mutants of frontotemporal dementia genes--Simple co-occurrence? Neurology. 81: 1338. PMID 24027059 DOI: 10.1212/Wnl.0B013E3182A825A1  0.354
2013 García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Ortega-Cubero S, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ. No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population. Pharmacogenetics and Genomics. 23: 587-90. PMID 23949322 DOI: 10.1097/Fpc.0B013E328364Db9D  0.385
2013 McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, ... ... Pastor P, et al. Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. Plos One. 8: e69190. PMID 23935950 DOI: 10.1371/Journal.Pone.0069190  0.439
2013 Gasca-Salas C, Arcocha J, Artieda J, Pastor P. Orthostatic myoclonus: an underrecognized cause of unsteadiness? Parkinsonism & Related Disorders. 19: 1013-7. PMID 23916653 DOI: 10.1016/J.Parkreldis.2013.07.004  0.354
2013 Arbizu J, Prieto E, Martínez-Lage P, Martí-Climent JM, García-Granero M, Lamet I, Pastor P, Riverol M, Gómez-Isla MT, Peñuelas I, Richter JA, Weiner MW. Automated analysis of FDG PET as a tool for single-subject probabilistic prediction and detection of Alzheimer's disease dementia. European Journal of Nuclear Medicine and Molecular Imaging. 40: 1394-405. PMID 23715905 DOI: 10.1007/S00259-013-2458-Z  0.368
2013 Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Lorenzo-Betancor O, Pastor P, Agúndez JA. Update on genetics of essential tremor. Acta Neurologica Scandinavica. 128: 359-71. PMID 23682623 DOI: 10.1111/Ane.12148  0.34
2013 García-Martín E, Lorenzo-Betancor O, Martínez C, Pastor P, Benito-León J, Millán-Pascual J, Calleja P, Díaz-Sánchez M, Pisa D, Turpín-Fenoll L, Alonso-Navarro H, Ayuso-Peralta L, Torrecillas D, Lorenzo E, Plaza-Nieto JF, et al. LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis. Bmc Neurology. 13: 34. PMID 23574883 DOI: 10.1186/1471-2377-13-34  0.345
2013 Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, Panegyres PK, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk AE, Brooks WS, ... ... Pastor P, et al. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. Plos One. 8: e56899. PMID 23437264 DOI: 10.1371/Journal.Pone.0056899  0.386
2013 Benitez BA, Cooper B, Pastor P, Jin SC, Lorenzo E, Cervantes S, Cruchaga C. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiology of Aging. 34: 1711.e15-7. PMID 23391427 DOI: 10.1016/J.Neurobiolaging.2012.12.018  0.787
2013 de Mena L, Samaranch LL, Coto E, Cardo LF, Ribacoba R, Lorenzo-Betancor O, Pastor P, Wang L, Irigoyen J, Mata IF, Díaz M, Moris G, Menéndez M, Corao AI, Lorenzo E, et al. Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. Journal of Molecular Neuroscience : Mn. 50: 264-9. PMID 23275044 DOI: 10.1007/S12031-012-9942-Y  0.404
2013 Rodríguez-Rodríguez E, Sánchez-Juan P, Vázquez-Higuera JL, Mateo I, Pozueta A, Berciano J, Cervantes S, Alcolea D, Martínez-Lage P, Clarimón J, Lleó A, Pastor P, Combarros O. Genetic risk score predicting accelerated progression from mild cognitive impairment to Alzheimer's disease. Journal of Neural Transmission (Vienna, Austria : 1996). 120: 807-12. PMID 23180304 DOI: 10.1007/S00702-012-0920-X  0.485
2013 Goñi J, Cervantes S, Arrondo G, Lamet I, Pastor P, Pastor MA. Selective brain gray matter atrophy associated with APOE ε4 and MAPT H1 in subjects with mild cognitive impairment. Journal of Alzheimer's Disease : Jad. 33: 1009-19. PMID 23064258 DOI: 10.3233/Jad-2012-121174  0.334
2013 García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, ... ... Pastor P, et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Human Mutation. 34: 79-82. PMID 22936364 DOI: 10.1002/Humu.22211  0.356
2012 Mata IF, Checkoway H, Hutter CM, Samii A, Roberts JW, Kim HM, Agarwal P, Alvarez V, Ribacoba R, Pastor P, Lorenzo-Betancor O, Infante J, Sierra M, Gómez-Garre P, Mir P, et al. Common variation in the LRRK2 gene is a risk factor for Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1822-5. PMID 23115130 DOI: 10.1002/Mds.25226  0.465
2012 García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, López-Alburquerque T, Samaranch L, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ. H1-MAPT and the risk for familial essential tremor. Plos One. 7: e41581. PMID 22911817 DOI: 10.1371/Journal.Pone.0041581  0.39
2012 Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's Research & Therapy. 4: 34. PMID 22906081 DOI: 10.1186/Alzrt137  0.835
2012 Pastor P. Genetic heterogeneity in Parkinson disease: the meaning of GWAS and replication studies. Neurology. 79: 619-20. PMID 22786592 DOI: 10.1212/Wnl.0B013E318264E3D2  0.439
2012 Botta-Orfila T, Ezquerra M, Pastor P, Fernández-Santiago R, Pont-Sunyer C, Compta Y, Lorenzo-Betancor O, Samaranch L, Martí MJ, Valldeoriola F, Calopa M, Fernández M, Aguilar M, de Fabregas O, Hernández-Vara J, et al. Age at onset in LRRK2-associated PD is modified by SNCA variants. Journal of Molecular Neuroscience : Mn. 48: 245-7. PMID 22669510 DOI: 10.1007/S12031-012-9820-7  0.422
2012 Jiménez-Jiménez FJ, García-Martín E, Lorenzo-Betancor O, Pastor P, Alonso-Navarro H, Agúndez JA. LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808. Journal of the Neurological Sciences. 317: 52-7. PMID 22425540 DOI: 10.1016/J.Jns.2012.02.030  0.364
2012 Cardo LF, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Pastor P, Samaranch L, Mata IF, Díaz M, Moris G, Menéndez M, Corao AI, Alvarez V. A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease. Journal of Molecular Neuroscience : Mn. 47: 425-30. PMID 22076805 DOI: 10.1007/S12031-011-9669-1  0.438
2012 Lorenzo-Betancor O, Samaranch L, Ezquerra M, Tolosa E, Lorenzo E, Irigoyen J, Gaig C, Pastor MA, Soto-Ortolaza AI, Ross OA, Rodríguez-Oroz MC, Valldeoriola F, Martí MJ, Luquin MR, Perez-Tur J, ... ... Pastor P, et al. LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 146-51. PMID 22038903 DOI: 10.1002/Mds.23968  0.431
2012 Agúndez JA, Lorenzo-Betancor O, Pastor P, García-Martín E, Luengo A, Alonso-Navarro H, Jiménez-Jiménez FJ. LINGO1 rs9652490 and rs11856808 are not associated with the risk of Parkinson's disease: results of a meta-analysis. Parkinsonism & Related Disorders. 18: 657-9. PMID 21955595 DOI: 10.1016/J.Parkreldis.2011.09.005  0.422
2012 Coria F, Gimenez-Garcia M, Samaranch L, Mora FJ, Sampol-Bas C, Pastor P. Nigrostriatal dopaminergic function in subjects with isolated action tremor. Parkinsonism & Related Disorders. 18: 49-53. PMID 21917500 DOI: 10.1016/J.Parkreldis.2011.08.025  0.341
2011 Cervantes S, Samaranch L, Vidal-Taboada JM, Lamet I, Bullido MJ, Frank-García A, Coria F, Lleó A, Clarimón J, Lorenzo E, Alonso E, Sánchez-Juan P, Rodríguez-Rodríguez E, Combarros O, Rosich M, ... ... Pastor P, et al. Genetic variation in APOE cluster region and Alzheimer's disease risk. Neurobiology of Aging. 32: 2107.e7-17. PMID 21752496 DOI: 10.1016/J.Neurobiolaging.2011.05.023  0.49
2011 Ayuso P, Martínez C, Lorenzo-Betancor O, Pastor P, Luengo A, Jiménez-Jiménez FJ, Alonso-Navarro H, Villalba MT, Agúndez JA, García-Martín E. A polymorphism located at an ATG transcription start site of the heme oxygenase-2 gene is associated with classical Parkinson's disease. Pharmacogenetics and Genomics. 21: 565-71. PMID 21709601 DOI: 10.1097/Fpc.0B013E328348F729  0.412
2011 Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, ... ... Pastor P, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics. 43: 699-705. PMID 21685912 DOI: 10.1038/Ng.859  0.603
2011 Lorenzo-Betancor O, Samaranch L, García-Martín E, Cervantes S, Agúndez JA, Jiménez-Jiménez FJ, Alonso-Navarro H, Luengo A, Coria F, Lorenzo E, Irigoyen J, Pastor P. LINGO1 gene analysis in Parkinson's disease phenotypes. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 722-7. PMID 21506150 DOI: 10.1002/Mds.23452  0.471
2011 Mata IF, Yearout D, Alvarez V, Coto E, de Mena L, Ribacoba R, Lorenzo-Betancor O, Samaranch L, Pastor P, Cervantes S, Infante J, Garcia-Gorostiaga I, Sierra M, Combarros O, Snapinn KW, et al. Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 819-23. PMID 21425343 DOI: 10.1002/Mds.23642  0.515
2011 García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ. Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor. Pharmacogenetics and Genomics. 21: 436-9. PMID 21422964 DOI: 10.1097/Fpc.0B013E328345Bec0  0.35
2011 Lorenzo-Betancor O, García-Martín E, Cervantes S, Agúndez JA, Jiménez-Jiménez FJ, Alonso-Navarro H, Luengo A, Coria F, Lorenzo E, Irigoyen J, Pastor P. Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor. European Journal of Neurology. 18: 1085-9. PMID 21219542 DOI: 10.1111/J.1468-1331.2010.03251.X  0.37
2011 Botta-Orfila T, Ezquerra M, Ríos J, Fernández-Santiago R, Cervantes S, Samaranch L, Pastor P, Martí MJ, Muñoz E, Valldeoriola F, Aguilar M, Calopa M, Hernández-Vara J, Tolosa E. Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 18: e32. PMID 21054681 DOI: 10.1111/J.1468-1331.2010.03245.X  0.414
2011 García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Lorenzo-Betancor O, Pastor P, Puertas I, Rubio L, López-Alburquerque T, Agúndez JA, Jiménez-Jiménez FJ. Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor. Journal of Neurology. 258: 203-11. PMID 20820800 DOI: 10.1007/S00415-010-5708-Z  0.325
2011 Ezquerra M, Pastor P, Gaig C, Vidal-Taboada JM, Cruchaga C, Muñoz E, Martí MJ, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E. Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy. Neurobiology of Aging. 32: 547.e11-6. PMID 19879020 DOI: 10.1016/J.Neurobiolaging.2009.09.011  0.689
2010 Samaranch L, Cervantes S, Barabash A, Alonso A, Cabranes JA, Lamet I, Ancín I, Lorenzo E, Martínez-Lage P, Marcos A, Clarimón J, Alcolea D, Lleó A, Blesa R, Gómez-Isla T, ... Pastor P, et al. The effect of MAPT H1 and APOE ε4 on transition from mild cognitive impairment to dementia. Journal of Alzheimer's Disease : Jad. 22: 1065-71. PMID 20930301 DOI: 10.3233/Jad-2010-101011  0.403
2010 de Mena L, Coto E, Cardo LF, Díaz M, Blázquez M, Ribacoba R, Salvador C, Pastor P, Samaranch L, Moris G, Menéndez M, Corao AI, Alvarez V. Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 1234-9. PMID 20468068 DOI: 10.1002/Ajmg.B.31086  0.38
2010 Samaranch L, Lorenzo-Betancor O, Arbelo JM, Ferrer I, Lorenzo E, Irigoyen J, Pastor MA, Marrero C, Isla C, Herrera-Henriquez J, Pastor P. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain : a Journal of Neurology. 133: 1128-42. PMID 20356854 DOI: 10.1093/Brain/Awq051  0.399
2010 Samaranch L, Lorenzo E, Pastor MA, Riverol M, Luquin MR, Rodríguez-Oroz MC, Obeso JA, Pastor P. Analysis of the GIGYF2 gene in familial and sporadic Parkinson disease in the Spanish population. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 17: 321-5. PMID 19845746 DOI: 10.1111/J.1468-1331.2009.02812.X  0.393
2010 Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, ... ... Pastor P, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging. 31: 725-31. PMID 18667258 DOI: 10.1016/J.Neurobiolaging.2008.06.012  0.532
2009 Pastor P. Familial neurodegeneration in progressive supranuclear palsy: more frequent than expected? Neurology. 73: 86-7. PMID 19420350 DOI: 10.1212/Wnl.0B013E3181Aa2A71  0.436
2009 Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, ... ... Pastor P, et al. Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiology of Aging. 30: 656-65. PMID 19217189 DOI: 10.1016/J.Neurobiolaging.2009.01.009  0.443
2009 Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E, Pastor P. 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiology of Disease. 33: 164-70. PMID 19022385 DOI: 10.1016/J.Nbd.2008.09.027  0.666
2009 Cruchaga C, Fernández-Seara MA, Seijo-Martínez M, Samaranch L, Lorenzo E, Hinrichs A, Irigoyen J, Maestro C, Prieto E, Martí-Climent JM, Arbizu J, Pastor MA, Pastor P. Cortical atrophy and language network reorganization associated with a novel progranulin mutation. Cerebral Cortex (New York, N.Y. : 1991). 19: 1751-60. PMID 19020205 DOI: 10.1093/Cercor/Bhn202  0.591
2009 Cervantes S, Vidal-Taboada JM, Samaranch L, Lamet I, Lorenzo E, Pastor P. Analysis of genetic variability in APOE and neighbouring genes in mild cognitive impairment Alzheimers & Dementia. 5: 463. DOI: 10.1016/J.Jalz.2009.04.778  0.324
2008 Clarimón J, Guerreiro R, Lleó A, Guardia C, Blesa R, Gómez-Isla T, Boada M, Bullido M, Ferrer I, Martínez-Lage P, Masdeu J, Molina L, Molinuevo JL, Pastor P, Pérez-Tur J, et al. P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1780  0.571
2006 Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, et al. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Annals of Neurology. 60: 314-22. PMID 16983685 DOI: 10.1002/Ana.20963  0.721
2006 Cairns NJ, Tu P, Pastor P, Norton J, Chakraverty S, Mukherjee O, Carter D, Behrens MI, Morris JC, Goate A. P4-108: Hereditary dysphasic disinhibition dementia 2 is a chromosome 17q21-linked frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions Alzheimer's & Dementia. 2: S546-S546. DOI: 10.1016/J.Jalz.2006.05.1847  0.557
2005 Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM, ... Pastor P, et al. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 64: 1578-85. PMID 15883319 DOI: 10.1212/01.Wnl.0000160116.65034.12  0.436
2005 Summerfield C, Junqué C, Tolosa E, Salgado-Pineda P, Gómez-Ansón B, Martí MJ, Pastor P, Ramírez-Ruíz B, Mercader J. Structural brain changes in Parkinson disease with dementia: a voxel-based morphometry study. Archives of Neurology. 62: 281-5. PMID 15710857 DOI: 10.1001/Archneur.62.2.281  0.352
2005 Junqué C, Ramírez-Ruiz B, Tolosa E, Summerfield C, Martí MJ, Pastor P, Gómez-Ansón B, Mercader JM. Amygdalar and hippocampal MRI volumetric reductions in Parkinson's disease with dementia. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 540-4. PMID 15645532 DOI: 10.1002/Mds.20371  0.372
2004 Pastor P, Ezquerra M, Perez JC, Chakraverty S, Norton J, Racette BA, McKeel D, Perlmutter JS, Tolosa E, Goate AM. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. Annals of Neurology. 56: 249-58. PMID 15293277 DOI: 10.1002/Ana.20178  0.66
2004 Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, et al. No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neuroscience Letters. 363: 99-101. PMID 15172093 DOI: 10.1016/J.Neulet.2004.03.070  0.664
2004 Pastor P, Goate AM. Molecular genetics of Alzheimer's disease. Current Psychiatry Reports. 6: 125-33. PMID 15038915 DOI: 10.1007/S11920-004-0052-6  0.677
2004 Oliva R, Pastor P. Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy. Annals of Neurology. 55: 448-9. PMID 14991828 DOI: 10.1002/Ana.20025  0.431
2004 Pastor P, Ezquerra M, Christian Perez J, Chakrataverty S, Norton J, Tolosa E, Racette BA, Goate AM. P4-160 Haplotype structure of the 17Q21 region in progressive supranuclear palsy and corticobasal degeneration Neurobiology of Aging. 25: S521. DOI: 10.1016/S0197-4580(04)81718-4  0.533
2003 Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. Archives of Neurology. 60: 1149-51. PMID 12925374 DOI: 10.1001/Archneur.60.8.1149  0.417
2003 Pastor P, Roe CM, Villegas A, Bedoya G, Chakraverty S, García G, Tirado V, Norton J, Ríos S, Martínez M, Kosik KS, Lopera F, Goate AM. Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Annals of Neurology. 54: 163-9. PMID 12891668 DOI: 10.1002/Ana.10636  0.665
2003 Ferrer I, Pastor P, Rey MJ, Muñoz E, Puig B, Pastor E, Oliva R, Tolosa E. Tau phosphorylation and kinase activation in familial tauopathy linked to deln296 mutation. Neuropathology and Applied Neurobiology. 29: 23-34. PMID 12581337 DOI: 10.1046/J.1365-2990.2003.00435.X  0.3
2002 Muñoz E, Tolosa E, Pastor P, Martí MJ, Valldeoriola F, Campdelacreu J, Oliva R. Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism Journal of Neurology, Neurosurgery, and Psychiatry. 73: 582-584. PMID 12397156 DOI: 10.1136/Jnnp.73.5.582  0.333
2002 Summerfield C, Gómez-Ansón B, Tolosa E, Mercader JM, Martí MJ, Pastor P, Junqué C. Dementia in Parkinson disease: a proton magnetic resonance spectroscopy study. Archives of Neurology. 59: 1415-20. PMID 12223027 DOI: 10.1001/Archneur.59.9.1415  0.387
2002 Sánchez-Valle R, Pastor P, Yagüe J, Ribalta T, Graus F, Tolosa E, Saiz A. Analysis of the exon 1 polymorphism in the Tau gene in transmissible spongiform encephalopathies. Journal of Neurology. 249: 938-9. PMID 12212558 DOI: 10.1007/S00415-002-0717-1  0.359
2002 Goetz CG, Koller WC, Poewe W, Rascol O, Sampaio C, Brin MF, Lees AJ, Lewitt P, Lozano A, Mizuno Y, Nutt J, Oertel W, Olanow CW, Tolosa E, Brefel-Courbon C, ... ... Pastor P, et al. Drugs to treat autonomic dysfunction in Parkinson's disease Movement Disorders. 17. PMID 12211150 DOI: 10.1002/Mds.5571  0.351
2002 Pastor P, Ezquerra M, Tolosa E, Muñoz E, Martí MJ, Valldeoriola F, Molinuevo JL, Calopa M, Oliva R. Further extension of the H1 haplotype associated with progressive supranuclear palsy. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 550-6. PMID 12112206 DOI: 10.1002/Mds.10076  0.443
2002 Pastor P, Muñoz E, Ezquerra M, Obach V, Martí MJ, Valldeoriola F, Tolosa E, Oliva R. Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 16: 1115-9. PMID 11748744 DOI: 10.1002/Mds.1198  0.382
2002 Lleó A, Blesa R, Gendre J, Castellví M, Pastor P, Queralt R, Oliva R. A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. Neurology. 57: 1926-8. PMID 11723295 DOI: 10.1212/Wnl.57.10.1926  0.337
2001 Muñoz E, Pastor P, José Martí M, Valldeoriola F, Oliva R, Tolosa E. [Sporadic and familial Parkinson's disease: comparative study]. Medicina Clinica. 116: 601-4. PMID 11412643 DOI: 10.1016/S0025-7753(01)71919-7  0.376
2001 Pastor P, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Annals of Neurology. 49: 263-7. PMID 11220749 DOI: 10.1002/1531-8249(20010201)49:2<263::Aid-Ana50>3.0.Co;2-K  0.405
2000 Muñoz E, Pastor P, Martı́ MJ, Oliva R, Tolosa E. A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. Neuroscience Letters. 289: 66-68. PMID 10899410 DOI: 10.1016/S0304-3940(00)01248-9  0.353
2000 Ezquerra M, Pastor P, Valldeoriola F, Molinuevo JL, Blesa R, Tolosa E, Oliva R. Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neuroscience Letters. 275: 183-6. PMID 10580705 DOI: 10.1016/S0304-3940(99)00738-7  0.442
2000 Pastor P, Ezquerra M, Mu�oz E, Mart� MJ, Blesa R, Tolosa E, Oliva R. Significant association between the tau gene A0/A0 genotype and Parkinson's disease Annals of Neurology. 47: 242-245. DOI: 10.1002/1531-8249(200002)47:2<242::Aid-Ana16>3.0.Co;2-L  0.466
1999 Pastor P, Muñoz E, Obach V, Martı́ MJ, Blesa R, Oliva R, Tolosa E. Dopamine receptor D2 intronic polymorphism in patients with Parkinson's disease. Neuroscience Letters. 273: 151-154. PMID 10515181 DOI: 10.1016/S0304-3940(99)00633-3  0.415
1999 Muñoz E, Obach V, Oliva R, Martí MJ, Ezquerra M, Pastor P, Ballesta F, Tolosa E. Alpha1-antichymotrypsin gene polymorphism and susceptibility to Parkinson's disease. Neurology. 52: 297-301. PMID 9932947 DOI: 10.1212/Wnl.52.2.297  0.409
1997 Muñoz E, Oliva R, Obach V, Martı́ MJ, Pastor P, Ballesta F, Tolosa E. Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the α-synuclein gene in early onset patients Neuroscience Letters. 235: 57-60. PMID 9389595 DOI: 10.1016/S0304-3940(97)00710-6  0.387
Show low-probability matches.