Sant Pau - Institut de Recerca

Principals línies de recerca

Biomarcadors en malaltia d’Alzheimer i altres demències neurodegeneratives:
- Biomarcadors LCR en malaltia d’Alzheimer, demència amb cossos de Lewy i demència frontotemporal.
- Imatge amb traçadors d’amiloide en demències neurodegeneratives.
- Marcadors de RM nous en malaltia d’Alzheimer preclínica i en altres demències degeneratives.
Biomarcardors per malaltia d’Alzheimer en síndrome de Down.
Bases moleculars de les malalties neurodegeneratives.

Reptes

Mantenir i incrementar la producció científica i el finançament durant els propers 5 anys.
Desenvolupar un pla de formació per a investigadors que entrin al grup, mantenint la seva naturalesa translacional.
Establir nous acords de cooperació per incrementar el número de sol·licituds de projectes europeus i internacionals.
Establir connexions amb grups d’innovació tecnològica i companyies per fomentar la sol·licitud de patents i contractes.

Memòria Científica del Grup: 2017 Scientific Report – Genetics in Neurodegenerative Diseases

Coordinació del grup

FORTEA ORMAECHEA, JUAN FGS
jfortea@santpau.cat

Membres

Alcolea Rodriguez, Daniel Andres FGS

Altuna Azkargorta, Miren IR

Arranz Martinez, Javier Jose IR

Aumatell Escabias, Joaquim IR

Bejanin , Alexandre Pierre Armand IR

Carmona Iragui, Maria FGS

Dols Icardo, Oriol IR

El Bachiri Azzahchi, Sumia IR

El Bounasri El Bennadi, Shaimaa IR

Gimenez Badia, Sandra FGS

Illan Gala, Ignacio FGS

Iulita , Maria Florencia IR

Lleo Bisa, Alberto FGS

Lorente Gordillo, Oriol IR

Marques Kiderle, Sonia Karin IR

Montal Blancafort, Victor IR

Morcillo Nieto, Alejandra Omaira IR

Mota Rodriguez, Cecilia IR

Palmieri , Marisa Alejandra IR

Pegueroles Monllau, Jordi IR

Querol Vilaseca, Marta CIBERNED

Reyes Santiago, Daniel CIBERNED

Ribas Bellavista, Laia IR

Ribosa Nogue, Roser IR

Rodriguez Baz, Iñigo IR

Rozalem Aranha, Mateus IR

Rubio Guerra, Sara FGS

Sala Matavera, Isabel FGS

Sanchez Aced, Erika CIBERNED

Sanchez Lopez, Oriol CIBERNED

Sanchez Saudinos, Maria Belen IR

Santos Santos, Miguel Angel FGS

Sirisi Dolcet, Sonia IR

Subirana Castillo, Andrea IR

Torres Alcala, Soraya IR

Valldeneu Castells, Silvia IR

Valle Tamayo, Natalia IR

Vera Campuzano, Elena CIBERNED

Videla Toro, Laura IR

Zhu , Nuole FGS

Publicacions 2021

Alcolea D, Delaby C, Munoz L, Torres S, Estelles T, Zhu N, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Pegueroles J, Hirtz C, Vialaret J, Lehmann S, Karikari TK, Ashton NJ, Blennow K, Zetterberg H, Belbin O, Blesa R, Clarimon J, Fortea J, Lleo A. Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(11). DOI:10.1136/jnnp-2021-326603. PMID:34103344. IF: 13,654
Altuna M, Gimenez S, Fortea J. Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity. Journal of Clinical Medicine. 2021; 10(13):2776. DOI:10.3390/jcm10132776. PMID:34202784. IF: 4,964
Aschenbrenner AJ, Baksh RA, Benejam B, Beresford JA, Coppus A, Fortea J, Handen BL, Hartley S, Head E, Jaeger J, Levin J, Loosli SV, Rebillat AS, Sacco S, Schmitt FA, Thurlow KE, Zaman S, Hassenstab J, Strydom A. Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2021; 13(1):e12184. DOI:10.1002/dad2.12184. PMID:33969175. FI: 16,655
Ashton NJ, Janelidze S, Al Khleifat A, Leuzy A, van der Ende EL, Karikari TK, Benedet AL, Pascoal TA, Lleo A, Parnetti L, Galimberti D, Bonanni L, Pilotto A, Padovani A, Lycke J, Novakova L, Axelsson M, Velayudhan L, Rabinovici GD, Miller B, Pariante C, Nikkheslat N, Resnick SM, Thambisetty M, Scholl M, Fernandez G, Gil FJ, de Munain AL, Al A, Rosa P, et al. A multicentre validation study of the diagnostic value of plasma neurofilament light. Nature Communications. 2021; 12(1):3400. DOI:10.1038/s41467-021-23620-z. IF: 17,694
Barranco N, Pla V, Alcolea D, Sanchez I, Fischer R, Ferrer I, Lleo A, Aguado F. Dense core vesicle markers in CSF and cortical tissues of patients with Alzheimer’s disease. Translational Neurodegeneration. 2021; 10(1):37. DOI:10.1186/s40035-021-00263-0. PMID:34565482. IF: 9,883
Bejanin A, Iulita MF, Vilaplana E, Carmona M, Benejam B, Videla L, Barroeta I, Fernandez S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, Gonzalez S, Munoz L, Padilla C, Aranha MR, Estelles T, Illan I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, et al. [Alcolea D, Clarimon J, Blesa R, Lleo A, Fortea J]. Association of Apolipoprotein E epsilon 4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome. JAMA Neurology. 2021; 78(8). DOI:10.1001/jamaneurol.2021.1893. PMID:34228042. IF: 29,907
Blauwendraat C, Iwaki H, Makarious MB, Bandres S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrom L, Toft M, van JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, et al. [Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J]. Investigation of Autosomal Genetic Sex Differences in Parkinson’s Disease. ANNALS OF NEUROLOGY. 2021; 90(1). DOI:10.1002/ana.26090. PMID:33901317. IF: 11,274
Bostrom G, Freyhult E, Virhammar J, Alcolea D, Tumani H, Otto M, Brundin RM, Kilander L, Lowenmark M, Giedraitis V, Lleo A, von C, Kultima K, Ingelsson M. Different Inflammatory Signatures in Alzheimer’s Disease and Frontotemporal Dementia Cerebrospinal Fluid. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(2). DOI:10.3233/JAD-201565. PMID:33814444. IF: 4,160
Bueicheku E, Gonzalez JM, Ortiz L, Montal V, Uquillas FD, De Marcos L, Orwig W, Kim CM, Ortiz E, Basaia S, Diez I, Sepulcre J. Divergent connectomic organization delineates genetic evolutionary traits in the human brain. Scientific Reports. 2021; 11(1):19692. DOI:10.1038/s41598-021-99082-6. PMID:34608211. IF: 4,996
Calabria M, Jefferies E, Sala I, Morenas-Rodriguez E, Illan-Gala I, Montal V, Fortea J, Lleo A, Costa A. Multilingualism in semantic dementia: language-dependent lexical retrieval from degraded conceptual representations. APHASIOLOGY. 2021; 35(2):240-266. DOI:10.1080/02687038.2019.1693025. IF: 1,902
Carmona M, Alcolea D, Barroeta I, Videla L, Munoz L, Van KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare I, Holland AJ, Nubling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleo A, Fortea J. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study. LANCET NEUROLOGY. 2021; 20(8). DOI:10.1016/S1474-4422(21)00129-0. PMID:34302785. IF: 59,935
Chen ZB, Zhang D, Reynolds RH, Gustavsson EK, Garcia S, D’Sa K, Fairbrother A, Vandrovcova J, Hardy J, Houlden H, Taliun S, Botia J, Ryten M, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, Int Parkinson’s Dis Genomics C. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. 2021; 12(1):2076. DOI:10.1038/s41467-021-22262-5. PMID:33824317. IF: 17,694
Chia R, Sabir MS, Bandres S, Saez S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding JH, Makarious MB, Diez M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George P, Londos E, Morgan K, et al. [Lleo A, Fortea J, Alcolea D, Clarimon J]. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. NATURE GENETICS. 2021; 53(3). DOI:10.1038/s41588-021-00785-3. PMID:33589841. IF: 41,307
de Asua DR, Mayer MA, Ortega MD, Borrel JM, Bermejo TD, Gonzalez D, Manso C, Moldenhauer F, Carmona M, Huls A, Sherman SL, Strydom A, de la Torre R, Dierssen M, Spanish Trisomy Res Soc COVID 21. Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome. Journal of Clinical Medicine. 2021; 10(16):3748. DOI:10.3390/jcm10163748. PMID:34442043. IF: 4,964
De Kort AM, Kuiperij HB, Alcolea D, Kersten I, Versleijen A, Greenberg SM, Stoops E, Schreuder FHBM, Klijn CJM, Lleo A, Claassen J, Verbeek MM. Cerebrospinal fluid levels of the neurotrophic factor neuroleukin are increased in early Alzheimer’s disease, but not in cerebral amyloid angiopathy. Alzheimers Research & Therapy. 2021; 13(1):160. DOI:10.1186/s13195-021-00899-0. PMID:34560885. IF: 8,823
de Rojas I, Moreno S, Tesi N, Grenier B, Andrade V, Pedersen NL, Stringa N, Zettergren A, Hernandez I, Montrreal L, Antunez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, Gonzalez A, Calero M, Franco E, Macias J, Blesa R, Cervera L, Menendez M, Frank A, Royo JL, Moreno F, Vilas RH, et al. [Alcolea D, Fortea J, Lleo A, Clarimon J]. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications. 2021; 12(1):3417. DOI:10.1038/s41467-021-22491-8. PMID:34099642. IF: 17,694
Dekker AD, Ulgiati AM, Groen H, Boxelaar VA, Sacco S, Falquero S, Carfi A, di A, Benejam B, Valldeneu S, Fopma R, Oosterik M, Hermelink M, Beugelsdijk G, Schippers M, Henstra H, Scholten M, Willink J, de Ruiter L, Willems L, Loonstra A, Coppus A, Tollenaere M, Fortea J, Onder G, Rebillat AS, Van D, De Deyn PP. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(4). DOI:10.3233/JAD-201427. PMID:33967040. IF: 4,160
Delaby C, Julian A, Page G, Ragot S, Lehmann S, Paccalin M. NFL strongly correlates with TNF-R1 in the plasma of AD patients, but not with cognitive decline. Scientific Reports. 2021;11(1):10283. DOI:10.1038/s41598-021-89749-5. PMID: 33986423. IF: 4,996
Delaby C, Vialaret J, Hirtz C, Lefebvre T, Herkert M, Puy H, Lasocki S, Lehmann S; HEPCIDANE study group. Analytical comparison of ELISA and mass spectrometry for quantification of serum hepcidin in critically ill patients. Bioanalysis. 2021;13(13):1029-1035. DOI:10.4155/bio-2021-0069. PMID: 34100293. IF: 2,695
Dewan R, Chia R, Ding JH, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibanez K, Shankaracharya F, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, et al. [Clarimón J, Dols O, Illan I, Lleó A]. Article Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. NEURON. 2021; 109(3). DOI:10.1016/j.neuron.2020.11.005. PMID:33242422. IF: 18,688
Dierssen M, Herault Y, Helguera P, de Lagran MM, Vazquez A, Christian B, Carmona M, Wiseman F, Mobley W, Fisher E, Brault V, Esbensen A, Jacola LM, Potier MC, Hamlett ED, Abbeduto L, Soriano LD, Busciglio J, Iulita MF, Crispino J, Malinge S, Barone E, Perluigi M, Costanzo F, Delabar JM, Bartesaghi R, Dekker AD, De Deyn P, Ormaechea JF, et al. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology. 2021; 12(4). DOI:10.1159/000514437. PMID:34421499. IF: 1,494
Dubois B, Villain N, Frisoni GB, Rabinovici GD, Sabbagh M, Cappa S, Bejanin A, Bombois S, Epelbaum S, Teichmann M, Habert MO, Nordberg A, Blennow K, Galasko D, Stern Y, Rowe CC, Salloway S, Schneider LS, Cummings JL, Feldman HH. Clinical diagnosis of Alzheimer’s disease: recommendations of the International Working Group. LANCET NEUROLOGY. 2021; 20(6). DOI:10.1016/S1474-4422(21)00066-1. PMID:33933186. IF: 59,935
Falgas N, Illan I, Allen IE, Mumford P, Essanaa YM, Le MM, You M, Grinberg LT, Rosen HJ, Neylan TC, Kramer JH, Walsh CM. Specific cortical and subcortical grey matter regions are associated with insomnia severity. PLoS One. 2021; 16(5):e0252076. DOI:10.1371/journal.pone.0252076. PMID:34038462. IF: 3,752
Ferrer P, Beyer K. Alternative platelet activation pathways and their role in neurodegenerative diseases. NEUROBIOLOGY OF DISEASE. 2021; 159:105512. DOI:10.1016/j.nbd.2021.105512. PMID:34537329. IF: 7,046
Flores L, Iulita MF, Orciani C, Tanna N, Yang JY, Bennett DA, Cuello AC. Cognitive and brain cytokine profile of non-demented individuals with cerebral amyloid-beta deposition. Journal of Neuroinflammation. 2021; 18(1):147. DOI:10.1186/s12974-021-02169-0. PMID:34218796. IF: 9,587
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona M. Alzheimer’s disease associated with Down syndrome: a genetic form of dementia. LANCET NEUROLOGY. 2021; 20(11). DOI:10.1016/S1474-4422(21)00245-3. PMID:34687637. IF: 59,935
Frederiksen KS, Nielsen TR, Appollonio I, Andersen BB, Riverol M, Boada M, Ceccaldi M, Dubois B, Engelborghs S, Frölich L, Hausner L, Gabelle A, Gabryelewicz T, Grimmer T, Hanseeuw B, Hort J, Hugon J, Jelic V, Koivisto A, Kramberger MG, Lebouvier T, Lleó A, de Mendonça A, Nobili F, Ousset PJ, Perneczky R, Olde Rikkert M, Robinson D, et al. Biomarker counseling, disclosure of diagnosis and follow-up in patients with mild cognitive impairment: A European Alzheimer’s disease consortium survey. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021;36(2):324-333. DOI:10.1002/gps.5427. PMID: 32896040. IF: 3,850
Gimenez S, Altuna M, Blessing E, Osorio RM, Fortea J. Sleep Disorders in Adults with Down Syndrome. Journal of Clinical Medicine. 2021; 10(14):3012. DOI:10.3390/jcm10143012. PMID:34300177. IF: 4,964
Hong SJ, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Tanzi RE, ten M, Wittig M, et al. TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels. Alzheimers & Dementia. 2021; 17(10). DOI:10.1002/alz.12330. PMID:33991015. IF: 16,655
Horta A, Pagonabarraga J, Martinez S, Busteed L, Pascual B, Illan I, Marin J, Aracil I, Perez J, Sampedro F, Bejr H, Kulisevsky J. Cognitive and behavioral profile of progressive supranuclear palsy and its phenotypes. JOURNAL OF NEUROLOGY. 2021; 268(9). DOI:10.1007/s00415-021-10511-y. PMID:33704556. IF: 6,682
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, et al. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3). DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF: 6,682
Illan I, Casaletto KB, Borrego S, Arenaza EM, Wolf A, Cobigo Y, Goh SYM, Staffaroni AM, Alcolea D, Fortea J, Blesa R, Clarimon J, Iulita MF, Brugulat A, Llado A, Grinberg LT, Possin K, Rankin KP, Kramer JH, Rabinovici GD, Boxer A, Seeley WW, Sturm VE, Gorno ML, Miller BL, Sanchez R, Perry DC, Lleo A, Rosen HJ. Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve. Alzheimers & Dementia. 2021; 17(8). DOI:10.1002/alz.12299. PMID:33590953. IF: 16,655
Illan I, Falgas N, Friedberg A, Castro S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos M, Borrego S, Cobigo Y, Dols O, Llado A, Sanchez R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleo A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Tempini MLG, Miller BL, Seeley WW, Rosen HJ, Perry DC. Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration. JAMA Network Open. 2021; 4(3):e211290. DOI:10.1001/jamanetworkopen.2021.1290. PMID:33704477. IF: 13,353
Illan I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer JH, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno ML, Seeley WW, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC. Plasma Tau and Neurofilament Light in Frontotemporal Lobar Degeneration and Alzheimer Disease. NEUROLOGY. 2021; 96(5). DOI:10.1212/WNL.0000000000011226. PMID:33199433. IF: 11,800
Illouz T, Biragyn A, Frenkel M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu EE, Herault Y, Potier MC, Botte A, Roper R, Sredni B, Sarid R, London J, Mobley W, Strydom A, Okun E. Specific Susceptibility to COVID-19 in Adults with Down Syndrome (Mar, 10.1007/s12017-021-08651-5, 2021). NEUROMOLECULAR MEDICINE. 2021; 23(4). DOI:10.1007/s12017-021-08657-z. PMID:33948879. IF:3,843 (Q2/D5).
Illouz T, Biragyn A, Iulita MF, Flores L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botte A, Roper R, Sredni B, London J, Mobley W, Strydom A, Okun E, COVID T21RS. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 2021; 12:621440. DOI:10.3389/fimmu.2021.621440. PMID:34248930. IF: 8,786
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botia J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, United B, Int Parkinsons Dis G. Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology. 2021; 78(4). DOI:10.1001/jamaneurol.2020.5257. PMID:33523105. IF: 29,907
Kim CM, Montal V, Diez I, Orwig W, Sepulcre J, Alzheimer’s N. Network interdigitations of Tau and amyloid-beta deposits define cognitive levels in aging. HUMAN BRAIN MAPPING. 2021; 42(10). DOI:10.1002/hbm.25350. PMID:33955621. IF: 5,399
Lage C, Lopez S, Bejanin A, Kazimierczak M, Aracil I, Calvo A, Pozueta A, Garcia M, Fernandez A, Bravo M, Jimenez J, Banzo I, Irure J, Pegueroles J, Illan I, Fortea J, Rodriguez E, Lleo A, Garcia CE, Sanchez P. Distinctive Oculomotor Behaviors in Alzheimer’s Disease and Frontotemporal Dementia. Frontiers in Aging Neuroscience. 2021; 12:603790. DOI:10.3389/fnagi.2020.603790. PMID:33613262. IF: 5,702
Lawingco T, Chaudhury S, Brookes KJ, Guetta T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, A beta-, and tau-related pathways determine polygenic risk for Alzheimer’s disease. NEUROBIOLOGY OF AGING. 2021; 101. DOI:10.1016/j.neurobiolaging.2020.11.009. PMID:33303219. IF: 5,133
Ledreux A, Thomas S, Hamlett ED, Trautman C, Gilmore A, Hager ER, Paredes DA, Margittai M, Fortea J, Granholm AC. Small Neuron-Derived Extracellular Vesicles from Individuals with Down Syndrome Propagate Tau Pathology in the Wildtype Mouse Brain. Journal of Clinical Medicine. 2021; 10(17):3931. DOI:10.3390/jcm10173931. PMID:34501378. IF: 4,964
Lleo A, Carmona M, Videla L, Fernandez S, Benejam B, Pegueroles J, Barroeta I, Altuna M, Valldeneu S, Xiao MF, Xu DS, Nunez R, Querol M, Sirisi S, Bejanin A, Iulita MF, Clarimon J, Blesa R, Worley P, Alcolea D, Fortea J, Belbin O. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome. Alzheimers Research & Therapy. 2021; 13(1):119. DOI:10.1186/s13195-021-00861-0. PMID:34183050. IF: 8,823
Lleo A, Zetterberg H, Pegueroles J, Karikari TK, Carmona M, Ashton NJ, Montal V, Barroeta I, Lantero J, Videla L, Altuna M, Benejam B, Fernandez S, Valldeneu S, Garzon D, Bejanin A, Iulita MF, Camacho V, Medrano S, Belbin O, Clarimon J, Lehmann S, Alcolea D, Blesa R, Blennow K, Fortea J. Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome. Nature Communications. 2021; 12(1):4304. DOI:10.1038/s41467-021-24319-x. PMID:34262030. IF: 17,694
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Montal V, Barroeta I, Bejanin A, Pegueroles J, Carmona M, Altuna M, Benejam B, Videla L, Fernandez S, Padilla C, Aranha MR, Iulita MF, Vidal D, Alcolea D, Blesa R, Lleo A, Fortea J. Metabolite Signature of Alzheimer’s Disease in Adults with Down Syndrome. ANNALS OF NEUROLOGY. 2021; 90(3). DOI:10.1002/ana.26178. PMID:34309066. IF: 11,274
Montal V, Vilaplana E, Pegueroles J, Bejanin A, Alcolea D, Carmona M, Clarimon J, Levin J, Cruchaga C, Graff NR, Noble JM, Lee JH, Allegri R, Karch CM, Laske C, Schofield PR, Salloway S, Ances B, Benzinger T, McDale E, Bateman R, Blesa R, Sanchez R, Lleo A, Fortea J, D. Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12224. PMID:33196147. IF: 16,655
Moreno S, Fernandez MV, de Rojas I, Garcia P, Hernandez I, Farias F, Budde JP, Quintela I, Madrid L, Gonzalez A, Montrreal L, Alarcon E, Alegret M, Maronas O, Pineda JA, Macias J, Marquie M, Valero S, Benaque A, Clarimon J, Bullido MJ, Garcia G, Pastor P, Sanchez P, Alvarez V, Pinol G, Garcia JM, Royo JL, Franco E, Mir P, et al. [Blesa R, Fortea J, Lleó A]. Long runs of homozygosity are associated with Alzheimer’s disease. Translational Psychiatry. 2021; 11(1):142. DOI:10.1038/s41398-020-01145-1. PMID:33627629. IF: 7,989
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Belbin O, Lehmann S, Sabidó E, Hirtz C. Editorial: Proteomics as a Tool for Biomarker and Drug Target Discovery: Improving the Diagnosis and Treatment of Neurodegenerative Diseases. Front Aging Neurosci. 2020 Nov 26;12:232. doi: 10.3389/fnagi.2020.00232. eCollection 2020.PMID: 33324192.

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Belbin O, Xiao MF, Xu D, Carmona-Iragui M, Pegueroles J, Benejam B, Videla L, Fernández S, Barroeta I, Nuñez-Llaves R, Montal V, Vilaplana E, Altuna M, Clarimón J, Alcolea D, Blesa R, Lleó A, Worley PF, Fortea J. Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome. Mol Neurodegener. 2020 Aug 17;15(1):46. doi: 10.1186/s13024-020-00398-0.PMID: 32807227.

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Cantero J.L., Atienza M., Lage C., Zaborszky L., Vilaplana E., Lopez-Garcia S., Pozueta A., Rodriguez-Rodriguez E., Blesa R., Alcolea D., Lleo A., Sanchez-Juan P., Fortea J. (2020) Atrophy of Basal Forebrain Initiates with Tau Pathology in Individuals at Risk for Alzheimer's Disease. CEREB CORTEX, 30 (4), 2083-2098.

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Cervera-Carles L., Dols-Icardo O., Molina-Porcel L., Alcolea D., Cervantes-Gonzalez A., Munoz-Llahuna L., Clarimon J. (2020) Assessing circular RNAs in Alzheimer's disease and frontotemporal lobar degeneration. NEUROBIOL AGING, 92 (), 7-11.

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Clarimón J. Genetic-environmental factors finally assessed together in Parkinson’s disease. J NEUROL NEUROSUR PS. 2020 Oct;91(10):1030. doi: 10.1136/jnnp-2020-324472.PMID: 32934106.

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Clarimon J., Moreno-Grau S., Cervera-Carles L., Dols-Icardo O., Sanchez-Juan P., Ruiz A. (2020) Genetic architecture of neurodegenerative dementias. NEUROPHARMACOLOGY, 168 (), -.

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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, Borroni B, Bowns L, Bråthen G, Bruni AC, et al. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology. 2020 Dec 15;95(24):e3288-e3302. doi: 10.1212/WNL.0000000000010914. Epub 2020 Sep 17. PMID: 32943482.

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De Luna N., Turon-Sans J., Cortes-Vicente E., Carrasco-Rozas A., Illan-Gala I., Dols-Icardo O., Clarimon J., Lleo A., Gallardo E., Illa I., Rojas-Garcia R. (2020) Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis. SCI REP-UK, 10 (1), -.

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Delaby C., Alcolea D., Carmona-Iragui M., Illan-Gala I., Morenas-Rodriguez E., Barroeta I., Altuna M., Estelles T., Santos-Santos M., Turon-Sans J., Munoz L., Ribosa-Nogue R., Sala-Matavera I., Sanchez-Saudinos B., Subirana A., Videla L., Benejam B., Sirisi S., Lehmann S., Belbin O., Clarimon J., Blesa R., Pagonabarraga J., Rojas-Garcia R., Fortea J., Lleo A. (2020) Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders. SCI REP-UK, 10 (1), -.

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Dols-Icardo O., Montal V., Sirisi S., Lopez-Pernas G., Cervera-Carles L., Querol-Vilaseca M., Munoz L., Belbin O., Alcolea D., Molina-Porcel L., Pegueroles J., Turon-Sans J., Blesa R., Lleo A., Fortea J., Rojas-Garcia R., Clarimon J. (2020) Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis. NEUROL-NEUROIMMUNOL, 7 (5), -.

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Faura J., Bustamante A., Penalba A., Giralt D., Simats A., Martinez-Saez E., Alcolea D., Fortea J., Lleo A., Teunissen C.E., van der Flier W.M., Ibanez L., Harari O., Cruchaga C., Hernandez-Guillamon M., Delgado P., Montaner J. (2020) CCL23: A Chemokine Associated with Progression from Mild Cognitive Impairment to Alzheimer's Disease. J ALZHEIMERS DIS, 73 (4), 1585-1595.

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Fortea J., Vilaplana E., Carmona-Iragui M., Benejam B., Videla L., Barroeta I., Fernandez S., Altuna M., Pegueroles J., Montal V., Valldeneu S., Gimenez S., Gonzalez-Ortiz S., Munoz L., Estelles T., Illan-Gala I., Belbin O., Camacho V., Wilson L.R., Annus T., Osorio R.S., Videla S., Lehmann S., Holland A.J., Alcolea D., Clarimon J., Zaman S.H., Blesa R., Lleo A. (2020) Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study. LANCET, 395 (10242), 1988-1997.

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Hauser WA, Lleo A, Schmolck H. Dementia and epilepsy: Not a one-way street. Neurology. 2020 Dec 15;95(24):1074-1075. doi: 10.1212/WNL.0000000000011084. PMID: 33097601.

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Illán-Gala I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer J, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno-Tempini ML, Seeley W, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC. Plasma tau and neurofilament light in frontotemporal lobar degeneration and Alzheimer’s disease. Neurology. 2020 Nov 16:10.1212/WNL.0000000000011226. doi: 10.1212/WNL.0000000000011226. Online ahead of print. PMID: 33199433.

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Kamer A.R., Craig R.G., Niederman R., Fortea J., de Leon M.J. (2020) Periodontal disease as a possible cause for Alzheimer's disease. PERIODONTOL 2000, 83 (1), 242-271.

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Lawingco T, Chaudhury S, Brookes KJ, Guetta-Baranes T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer’s disease. Neurobiol Aging. 2020 Nov 12:S0197-4580(20)30391-2. doi: 10.1016/j.neurobiolaging.2020.11.009. Online ahead of print. PMID: 33303219.

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Lehmann S, Dumurgier J, Ayrignac X, Marelli C, Alcolea D, Ormaechea JF, Thouvenot E, Delaby C, Hirtz C, Vialaret J, Ginestet N, Bouaziz-Amar E, Laplanche JL, Labauge P, Paquet C, Lleo A, Gabelle A; Alzheimer’s Disease Neuroimaging Initiative (ADNI). Cerebrospinal fluid A beta 1-40 peptides increase in Alzheimer’s disease and are highly correlated with phospho-tau in control individuals. Alzheimers Res Ther. 2020 Oct 2;12(1):123. doi: 10.1186/s13195-020-00696-1. PMID: 33008460.

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Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z; International Parkinson’s Disease Genomic Consortium (IPDGC). Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease. J Med Genet. 2020; 57(5): 331-338. doi: 10.1136/jmedgenet-2019-106283. PMID: 31784483.

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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. 2020 May 19;9(5):1252. doi: 10.3390/cells9051252.PMID: 32438605.

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Lopez-Mora D.A., Fernandez Leon A., Lleo A., Blesa R., Camacho V. (2020) The Added Value of Tau-PET in the Assessment of Progressive Supranuclear Palsy. CLIN NUCL MED, 45 (5), E239-E240.

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Martín-Aguilar L, Camps-Renom P, Lleixà C, Pascual-Goñi E, Díaz-Manera J, Rojas-García R, De Luna N, Gallardo E, Cortés-Vicente E, Muñoz L, Alcolea D, Lleó A, Casasnovas C, Homedes C, Gutiérrez-Gutiérrez G, et al. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients. J Neurol Neurosurg Ps. 2020 Nov 5:jnnp-2020-323899. doi: 10.1136/jnnp-2020-323899. Online ahead of print. PMID: 33154183.

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Montal V, Vilaplana E, Pegueroles J, Bejanin A, Alcolea D, Carmona-Iragui M, Clarimón J, Levin J, Cruchaga C, Graff-Radford NR, Noble JM, Lee JH, Allegri R, Karch CM, Laske C, Schofield PR, Salloway S, Ances B, Benzinger T, McDale E, Bateman R, Blesa R, Sánchez-Valle R, Lleó A, Fortea J; Dominantly Inherited Alzheimer Network (DIAN). Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimers Dement. 2020 Nov 16. doi: 10.1002/alz.12224. Online ahead of print. PMID: 33196147.

IF: 21,5660

Pascual-Goñi E, Fortea J, Martínez-Domeño A, Rabella N, Tecame M, Gómez-Oliva C, Querol L, Gómez-Ansón B. COVID-19-associated ophthalmoparesis and hypothalamic involvement. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 25;7(5):e823. doi: 10.1212/NXI.0000000000000823. Print 2020 Sep. PMID: 32587102.

IF: 8,4850

Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky-McHale SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Diana Rosas H, Zaman S, Wang MC, Tycko B, Lee J, Handen B, Hartley S, Fortea J, O’Bryant S; Alzheimer’s Biomarker Consortium –Down Syndrome (ABC-DS). Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer’s Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. J Alzheimers Dis. 2020 Dec 16. doi: 10.3233/JAD-201167. Online ahead of print. PMID: 33337378.

IF: 2,0350

Rosas I., Martinez C., Clarimon J., Lleo A., Illan-Gala I., Dols-Icardo O., Borroni B., Almeida M.R., van der Zee J., Van Broeckhoven C., Bruni A.C., Anfossi M., Bernardi L., Maletta R., Serpente M., Galimberti D., Scarpini E., Rossi G., Caroppo P., Benussi L., Ghidoni R., Binetti G., Nacmias B., Sorbi S., Piaceri I., Bagnoli S., Antonell A., Sanchez-Valle R., De la Casa-Fages B., Grandas F., Diez-Fairen M., Pastor P., Ferrari R., Alvarez V., Menendez-Gonzalez M. (2020) Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. NEUROBIOL AGING, 87 (), 139.e1-139.e7.

IF: 4,6730

Sampedro F, Stantonyonge N, Martínez-Horta S, Alcolea D, Lleó A, Muñoz L, Pérez-González R, Marín-Lahoz J, Gómez-Ansón B, Chico A. Increased plasma neurofilament light chain levels in patients with type-1 diabetes with impaired awareness of hypoglycemia. BMJ Open Diab Res Care. 2020 Jul;8(1):e001516. doi: 10.1136/bmjdrc-2020-001516. PMID: 32636221.

IF: 3,3880

Shi L., Winchester L.M., Liu B.Y., Killick R., Ribe E.M., Westwood S., Baird A.L., Buckley N.J., Hong S., Dobricic V., Kilpert F., Franke A., Kiddle S., Sattlecker M., Dobson R., Cuadrado A., Hye A., Ashton N.J., Morgan A.R., Bos I., Vos S.J.B., Ten Kate M., Scheltens P., Vandenberghe R., Gabel S., Meersmans K., Engelborghs S., De Roeck E.E., Sleegers K., Frisoni G.B., Blin O., Richardson J.C., Bordet R., Molinuevo J.L., Rami L., Wallin A., Kettunen P., Tsolaki M., Verhey F., Lleo A., Alcolea D., Popp J., Peyratout G., Martinez-Lage P., Tainta M., Johannsen P., Teunissen C.E., Freund-Levi Y., Frolich L., Legido-Quigley C., Barkhof F., Blennow K., Rasmussen K.L., Nordestgaard Bo.G., Frikke-Schmidt R., Nielsen S.F., Soininen H., Vellas B., Kloszewska I., Mecocci P., Zetterberg H., Morgan B.P., Streffer J., Visser P.J., Bertram L., Nevado-Holgado A.J., Lovestone S. (2020) Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology. J ALZHEIMERS DIS, 77 (3), 1353-1368.

IF: 4,4720

Snyder H.M., Bain L.J., Brickman A.M., Carrillo M.C., Esbensen A.J., Espinosa J.M., Fernandez F., Fortea J., Hartley S.L., Head E., Hendrix J., Kishnani P.S., Lai F., Lao P., Lemere C., Mobley W., Mufson E.J., Potter H., Zaman S.H., Granholm A.-C., Rosas H.D., Strydom A., Whitten M.S., Rafii M.S. (2020) Further understanding the connection between Alzheimer's disease and Down syndrome. ALZHEIMERS DEMENT, 16 (7), 1065-1077.

IF: 21,5660

Tijms B.M., Gobom J., Reus L., Jansen I., Hong S., Dobricic V., Kilpert F., Ten Kate M., Barkhof F., Tsolaki M., Verhey F.R.J., Popp J., Martinez-Lage P., Vandenberghe R., Lleo A., Molinuevo J.L., Engelborghs S., Bertram L., Lovestone S., Streffer J., Vos S., Bos I., Blennow K., Scheltens P., Teunissen C.E., Zetterberg H., Visser P.J. (2020) Pathophysiological subtypes of Alzheimer's disease based on cerebrospinal fluid proteomics. BRAIN, 143 (12), 3776-3792.

IF: 13,5010

Tort-Merino A, Laine M, Valech N, Olives J, León M, Ecay-Torres M, Estanga A, Martínez-Lage P, Fortea J, Sánchez-Valle R, Rami L, Rodríguez-Fornells A. Accelerated long-term forgetting over three months in asymptomatic APOE 4 carriers. Ann Clin Transl Neur. 2020 Dec 25. doi: 10.1002/acn3.51245. Online ahead of print. PMID: 33369208.

IF: 4,5110

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, Zetterberg H, 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 Neuropathol. 2020; 139(5): 959-962. doi: 10.1007/s00401-019-02107-8. PMID:31955222.

IF: 17,0880

Veerabhadrappa B., Delaby C., Hirtz C., Vialaret J., Alcolea D., Lleo A., Fortea J., Santosh M.S., Choubey S., Lehmann S. (2020) Detection of amyloid beta peptides in body fluids for the diagnosis of alzheimer’s disease: Where do we stand?. CRIT REV CL LAB SCI, 57 (2), 99-113.

IF: 6,2500

Vilaplana E, Rodriguez-Vieitez E, Ferreira D, Montal V, Almkvist O, Wall A, Lleó A, Westman E, Graff C, Fortea J, Nordberg A. Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease. Neurology. 2020 May 12;94(19):e2026-e2036. doi: 10.1212/WNL.0000000000009405. PMID: 32291295.

IF: 9,9100

Westwood S., Baird A.L., Anand S.N., Nevado-Holgado A.J., Kormilitzin A., Shi L., Hye A., Ashton N.J., Morgan A.R., Bos I., Vos S.J.B., Baker S., Buckley N.J., Ten Kate M., Scheltens P., Teunissen C.E., Vandenberghe R., Gabel S., Meersmans K., Engelborghs S., De Roeck E.E., Sleegers K., Frisoni G.B., Blin O., Richardson J.C., Bordet R., Molinuevo J.L., Rami L., Wallin A., Kettunen P., Tsolaki M., Verhey F., Lleo A., Sala I., Popp J., Peyratout G., Martinez-Lage P., Tainta M., Johannsen P., Freund-Levi Y., Frolich L., Dobricic V., Legido-Quigley C., Bertram L., Barkhof F., Zetterberg H., Morgan B.P., Streffer J., Visser P.J., Lovestone S. (2020) Validation of plasma proteomic biomarkers relating to brain amyloid burden in the EMIF-Alzheimer's disease multimodal biomarker discovery cohort. J ALZHEIMERS DIS, 74 (1), 213-225.

IF: 4,4720

Per més informació sobre les nostres línies de recerca, consulti el web

https://santpaumemoryunit.com

presentació

Principals línies de recerca

Biomarcadors en malaltia d’Alzheimer i altres demències neurodegeneratives:
- Biomarcadors LCR en malaltia d’Alzheimer, demència amb cossos de Lewy i demència frontotemporal.
- Imatge amb traçadors d’amiloide en demències neurodegeneratives.
- Marcadors de RM nous en malaltia d’Alzheimer preclínica i en altres demències degeneratives.
Biomarcardors per malaltia d’Alzheimer en síndrome de Down.
Bases moleculars de les malalties neurodegeneratives.

Reptes

Mantenir i incrementar la producció científica i el finançament durant els propers 5 anys.
Desenvolupar un pla de formació per a investigadors que entrin al grup, mantenint la seva naturalesa translacional.
Establir nous acords de cooperació per incrementar el número de sol·licituds de projectes europeus i internacionals.
Establir connexions amb grups d’innovació tecnològica i companyies per fomentar la sol·licitud de patents i contractes.

Memòria Científica del Grup: 2017 Scientific Report – Genetics in Neurodegenerative Diseases

equip

Coordinació del grup

FORTEA ORMAECHEA, JUAN FGS
jfortea@santpau.cat

Membres

Alcolea Rodriguez, Daniel Andres FGS

Altuna Azkargorta, Miren IR

Arranz Martinez, Javier Jose IR

Aumatell Escabias, Joaquim IR

Bejanin , Alexandre Pierre Armand IR

Carmona Iragui, Maria FGS

Dols Icardo, Oriol IR

El Bachiri Azzahchi, Sumia IR

El Bounasri El Bennadi, Shaimaa IR

Gimenez Badia, Sandra FGS

Illan Gala, Ignacio FGS

Iulita , Maria Florencia IR

Lleo Bisa, Alberto FGS

Lorente Gordillo, Oriol IR

Marques Kiderle, Sonia Karin IR

Montal Blancafort, Victor IR

Morcillo Nieto, Alejandra Omaira IR

Mota Rodriguez, Cecilia IR

Palmieri , Marisa Alejandra IR

Pegueroles Monllau, Jordi IR

Querol Vilaseca, Marta CIBERNED

Reyes Santiago, Daniel CIBERNED

Ribas Bellavista, Laia IR

Ribosa Nogue, Roser IR

Rodriguez Baz, Iñigo IR

Rozalem Aranha, Mateus IR

Rubio Guerra, Sara FGS

Sala Matavera, Isabel FGS

Sanchez Aced, Erika CIBERNED

Sanchez Lopez, Oriol CIBERNED

Sanchez Saudinos, Maria Belen IR

Santos Santos, Miguel Angel FGS

Sirisi Dolcet, Sonia IR

Subirana Castillo, Andrea IR

Torres Alcala, Soraya IR

Valldeneu Castells, Silvia IR

Valle Tamayo, Natalia IR

Vera Campuzano, Elena CIBERNED

Videla Toro, Laura IR

Zhu , Nuole FGS

producció científica

Publicacions 2021

Alcolea D, Delaby C, Munoz L, Torres S, Estelles T, Zhu N, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Pegueroles J, Hirtz C, Vialaret J, Lehmann S, Karikari TK, Ashton NJ, Blennow K, Zetterberg H, Belbin O, Blesa R, Clarimon J, Fortea J, Lleo A. Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(11). DOI:10.1136/jnnp-2021-326603. PMID:34103344. IF: 13,654
Altuna M, Gimenez S, Fortea J. Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity. Journal of Clinical Medicine. 2021; 10(13):2776. DOI:10.3390/jcm10132776. PMID:34202784. IF: 4,964
Aschenbrenner AJ, Baksh RA, Benejam B, Beresford JA, Coppus A, Fortea J, Handen BL, Hartley S, Head E, Jaeger J, Levin J, Loosli SV, Rebillat AS, Sacco S, Schmitt FA, Thurlow KE, Zaman S, Hassenstab J, Strydom A. Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2021; 13(1):e12184. DOI:10.1002/dad2.12184. PMID:33969175. FI: 16,655
Ashton NJ, Janelidze S, Al Khleifat A, Leuzy A, van der Ende EL, Karikari TK, Benedet AL, Pascoal TA, Lleo A, Parnetti L, Galimberti D, Bonanni L, Pilotto A, Padovani A, Lycke J, Novakova L, Axelsson M, Velayudhan L, Rabinovici GD, Miller B, Pariante C, Nikkheslat N, Resnick SM, Thambisetty M, Scholl M, Fernandez G, Gil FJ, de Munain AL, Al A, Rosa P, et al. A multicentre validation study of the diagnostic value of plasma neurofilament light. Nature Communications. 2021; 12(1):3400. DOI:10.1038/s41467-021-23620-z. IF: 17,694
Barranco N, Pla V, Alcolea D, Sanchez I, Fischer R, Ferrer I, Lleo A, Aguado F. Dense core vesicle markers in CSF and cortical tissues of patients with Alzheimer’s disease. Translational Neurodegeneration. 2021; 10(1):37. DOI:10.1186/s40035-021-00263-0. PMID:34565482. IF: 9,883
Bejanin A, Iulita MF, Vilaplana E, Carmona M, Benejam B, Videla L, Barroeta I, Fernandez S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, Gonzalez S, Munoz L, Padilla C, Aranha MR, Estelles T, Illan I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, et al. [Alcolea D, Clarimon J, Blesa R, Lleo A, Fortea J]. Association of Apolipoprotein E epsilon 4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome. JAMA Neurology. 2021; 78(8). DOI:10.1001/jamaneurol.2021.1893. PMID:34228042. IF: 29,907
Blauwendraat C, Iwaki H, Makarious MB, Bandres S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrom L, Toft M, van JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, et al. [Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J]. Investigation of Autosomal Genetic Sex Differences in Parkinson’s Disease. ANNALS OF NEUROLOGY. 2021; 90(1). DOI:10.1002/ana.26090. PMID:33901317. IF: 11,274
Bostrom G, Freyhult E, Virhammar J, Alcolea D, Tumani H, Otto M, Brundin RM, Kilander L, Lowenmark M, Giedraitis V, Lleo A, von C, Kultima K, Ingelsson M. Different Inflammatory Signatures in Alzheimer’s Disease and Frontotemporal Dementia Cerebrospinal Fluid. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(2). DOI:10.3233/JAD-201565. PMID:33814444. IF: 4,160
Bueicheku E, Gonzalez JM, Ortiz L, Montal V, Uquillas FD, De Marcos L, Orwig W, Kim CM, Ortiz E, Basaia S, Diez I, Sepulcre J. Divergent connectomic organization delineates genetic evolutionary traits in the human brain. Scientific Reports. 2021; 11(1):19692. DOI:10.1038/s41598-021-99082-6. PMID:34608211. IF: 4,996
Calabria M, Jefferies E, Sala I, Morenas-Rodriguez E, Illan-Gala I, Montal V, Fortea J, Lleo A, Costa A. Multilingualism in semantic dementia: language-dependent lexical retrieval from degraded conceptual representations. APHASIOLOGY. 2021; 35(2):240-266. DOI:10.1080/02687038.2019.1693025. IF: 1,902
Carmona M, Alcolea D, Barroeta I, Videla L, Munoz L, Van KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare I, Holland AJ, Nubling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleo A, Fortea J. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study. LANCET NEUROLOGY. 2021; 20(8). DOI:10.1016/S1474-4422(21)00129-0. PMID:34302785. IF: 59,935
Chen ZB, Zhang D, Reynolds RH, Gustavsson EK, Garcia S, D’Sa K, Fairbrother A, Vandrovcova J, Hardy J, Houlden H, Taliun S, Botia J, Ryten M, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, Int Parkinson’s Dis Genomics C. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. 2021; 12(1):2076. DOI:10.1038/s41467-021-22262-5. PMID:33824317. IF: 17,694
Chia R, Sabir MS, Bandres S, Saez S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding JH, Makarious MB, Diez M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George P, Londos E, Morgan K, et al. [Lleo A, Fortea J, Alcolea D, Clarimon J]. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. NATURE GENETICS. 2021; 53(3). DOI:10.1038/s41588-021-00785-3. PMID:33589841. IF: 41,307
de Asua DR, Mayer MA, Ortega MD, Borrel JM, Bermejo TD, Gonzalez D, Manso C, Moldenhauer F, Carmona M, Huls A, Sherman SL, Strydom A, de la Torre R, Dierssen M, Spanish Trisomy Res Soc COVID 21. Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome. Journal of Clinical Medicine. 2021; 10(16):3748. DOI:10.3390/jcm10163748. PMID:34442043. IF: 4,964
De Kort AM, Kuiperij HB, Alcolea D, Kersten I, Versleijen A, Greenberg SM, Stoops E, Schreuder FHBM, Klijn CJM, Lleo A, Claassen J, Verbeek MM. Cerebrospinal fluid levels of the neurotrophic factor neuroleukin are increased in early Alzheimer’s disease, but not in cerebral amyloid angiopathy. Alzheimers Research & Therapy. 2021; 13(1):160. DOI:10.1186/s13195-021-00899-0. PMID:34560885. IF: 8,823
de Rojas I, Moreno S, Tesi N, Grenier B, Andrade V, Pedersen NL, Stringa N, Zettergren A, Hernandez I, Montrreal L, Antunez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, Gonzalez A, Calero M, Franco E, Macias J, Blesa R, Cervera L, Menendez M, Frank A, Royo JL, Moreno F, Vilas RH, et al. [Alcolea D, Fortea J, Lleo A, Clarimon J]. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications. 2021; 12(1):3417. DOI:10.1038/s41467-021-22491-8. PMID:34099642. IF: 17,694
Dekker AD, Ulgiati AM, Groen H, Boxelaar VA, Sacco S, Falquero S, Carfi A, di A, Benejam B, Valldeneu S, Fopma R, Oosterik M, Hermelink M, Beugelsdijk G, Schippers M, Henstra H, Scholten M, Willink J, de Ruiter L, Willems L, Loonstra A, Coppus A, Tollenaere M, Fortea J, Onder G, Rebillat AS, Van D, De Deyn PP. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(4). DOI:10.3233/JAD-201427. PMID:33967040. IF: 4,160
Delaby C, Julian A, Page G, Ragot S, Lehmann S, Paccalin M. NFL strongly correlates with TNF-R1 in the plasma of AD patients, but not with cognitive decline. Scientific Reports. 2021;11(1):10283. DOI:10.1038/s41598-021-89749-5. PMID: 33986423. IF: 4,996
Delaby C, Vialaret J, Hirtz C, Lefebvre T, Herkert M, Puy H, Lasocki S, Lehmann S; HEPCIDANE study group. Analytical comparison of ELISA and mass spectrometry for quantification of serum hepcidin in critically ill patients. Bioanalysis. 2021;13(13):1029-1035. DOI:10.4155/bio-2021-0069. PMID: 34100293. IF: 2,695
Dewan R, Chia R, Ding JH, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibanez K, Shankaracharya F, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, et al. [Clarimón J, Dols O, Illan I, Lleó A]. Article Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. NEURON. 2021; 109(3). DOI:10.1016/j.neuron.2020.11.005. PMID:33242422. IF: 18,688
Dierssen M, Herault Y, Helguera P, de Lagran MM, Vazquez A, Christian B, Carmona M, Wiseman F, Mobley W, Fisher E, Brault V, Esbensen A, Jacola LM, Potier MC, Hamlett ED, Abbeduto L, Soriano LD, Busciglio J, Iulita MF, Crispino J, Malinge S, Barone E, Perluigi M, Costanzo F, Delabar JM, Bartesaghi R, Dekker AD, De Deyn P, Ormaechea JF, et al. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology. 2021; 12(4). DOI:10.1159/000514437. PMID:34421499. IF: 1,494
Dubois B, Villain N, Frisoni GB, Rabinovici GD, Sabbagh M, Cappa S, Bejanin A, Bombois S, Epelbaum S, Teichmann M, Habert MO, Nordberg A, Blennow K, Galasko D, Stern Y, Rowe CC, Salloway S, Schneider LS, Cummings JL, Feldman HH. Clinical diagnosis of Alzheimer’s disease: recommendations of the International Working Group. LANCET NEUROLOGY. 2021; 20(6). DOI:10.1016/S1474-4422(21)00066-1. PMID:33933186. IF: 59,935
Falgas N, Illan I, Allen IE, Mumford P, Essanaa YM, Le MM, You M, Grinberg LT, Rosen HJ, Neylan TC, Kramer JH, Walsh CM. Specific cortical and subcortical grey matter regions are associated with insomnia severity. PLoS One. 2021; 16(5):e0252076. DOI:10.1371/journal.pone.0252076. PMID:34038462. IF: 3,752
Ferrer P, Beyer K. Alternative platelet activation pathways and their role in neurodegenerative diseases. NEUROBIOLOGY OF DISEASE. 2021; 159:105512. DOI:10.1016/j.nbd.2021.105512. PMID:34537329. IF: 7,046
Flores L, Iulita MF, Orciani C, Tanna N, Yang JY, Bennett DA, Cuello AC. Cognitive and brain cytokine profile of non-demented individuals with cerebral amyloid-beta deposition. Journal of Neuroinflammation. 2021; 18(1):147. DOI:10.1186/s12974-021-02169-0. PMID:34218796. IF: 9,587
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona M. Alzheimer’s disease associated with Down syndrome: a genetic form of dementia. LANCET NEUROLOGY. 2021; 20(11). DOI:10.1016/S1474-4422(21)00245-3. PMID:34687637. IF: 59,935
Frederiksen KS, Nielsen TR, Appollonio I, Andersen BB, Riverol M, Boada M, Ceccaldi M, Dubois B, Engelborghs S, Frölich L, Hausner L, Gabelle A, Gabryelewicz T, Grimmer T, Hanseeuw B, Hort J, Hugon J, Jelic V, Koivisto A, Kramberger MG, Lebouvier T, Lleó A, de Mendonça A, Nobili F, Ousset PJ, Perneczky R, Olde Rikkert M, Robinson D, et al. Biomarker counseling, disclosure of diagnosis and follow-up in patients with mild cognitive impairment: A European Alzheimer’s disease consortium survey. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021;36(2):324-333. DOI:10.1002/gps.5427. PMID: 32896040. IF: 3,850
Gimenez S, Altuna M, Blessing E, Osorio RM, Fortea J. Sleep Disorders in Adults with Down Syndrome. Journal of Clinical Medicine. 2021; 10(14):3012. DOI:10.3390/jcm10143012. PMID:34300177. IF: 4,964
Hong SJ, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Tanzi RE, ten M, Wittig M, et al. TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels. Alzheimers & Dementia. 2021; 17(10). DOI:10.1002/alz.12330. PMID:33991015. IF: 16,655
Horta A, Pagonabarraga J, Martinez S, Busteed L, Pascual B, Illan I, Marin J, Aracil I, Perez J, Sampedro F, Bejr H, Kulisevsky J. Cognitive and behavioral profile of progressive supranuclear palsy and its phenotypes. JOURNAL OF NEUROLOGY. 2021; 268(9). DOI:10.1007/s00415-021-10511-y. PMID:33704556. IF: 6,682
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, et al. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3). DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF: 6,682
Illan I, Casaletto KB, Borrego S, Arenaza EM, Wolf A, Cobigo Y, Goh SYM, Staffaroni AM, Alcolea D, Fortea J, Blesa R, Clarimon J, Iulita MF, Brugulat A, Llado A, Grinberg LT, Possin K, Rankin KP, Kramer JH, Rabinovici GD, Boxer A, Seeley WW, Sturm VE, Gorno ML, Miller BL, Sanchez R, Perry DC, Lleo A, Rosen HJ. Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve. Alzheimers & Dementia. 2021; 17(8). DOI:10.1002/alz.12299. PMID:33590953. IF: 16,655
Illan I, Falgas N, Friedberg A, Castro S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos M, Borrego S, Cobigo Y, Dols O, Llado A, Sanchez R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleo A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Tempini MLG, Miller BL, Seeley WW, Rosen HJ, Perry DC. Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration. JAMA Network Open. 2021; 4(3):e211290. DOI:10.1001/jamanetworkopen.2021.1290. PMID:33704477. IF: 13,353
Illan I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer JH, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno ML, Seeley WW, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC. Plasma Tau and Neurofilament Light in Frontotemporal Lobar Degeneration and Alzheimer Disease. NEUROLOGY. 2021; 96(5). DOI:10.1212/WNL.0000000000011226. PMID:33199433. IF: 11,800
Illouz T, Biragyn A, Frenkel M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu EE, Herault Y, Potier MC, Botte A, Roper R, Sredni B, Sarid R, London J, Mobley W, Strydom A, Okun E. Specific Susceptibility to COVID-19 in Adults with Down Syndrome (Mar, 10.1007/s12017-021-08651-5, 2021). NEUROMOLECULAR MEDICINE. 2021; 23(4). DOI:10.1007/s12017-021-08657-z. PMID:33948879. IF:3,843 (Q2/D5).
Illouz T, Biragyn A, Iulita MF, Flores L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botte A, Roper R, Sredni B, London J, Mobley W, Strydom A, Okun E, COVID T21RS. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 2021; 12:621440. DOI:10.3389/fimmu.2021.621440. PMID:34248930. IF: 8,786
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botia J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, United B, Int Parkinsons Dis G. Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology. 2021; 78(4). DOI:10.1001/jamaneurol.2020.5257. PMID:33523105. IF: 29,907
Kim CM, Montal V, Diez I, Orwig W, Sepulcre J, Alzheimer’s N. Network interdigitations of Tau and amyloid-beta deposits define cognitive levels in aging. HUMAN BRAIN MAPPING. 2021; 42(10). DOI:10.1002/hbm.25350. PMID:33955621. IF: 5,399
Lage C, Lopez S, Bejanin A, Kazimierczak M, Aracil I, Calvo A, Pozueta A, Garcia M, Fernandez A, Bravo M, Jimenez J, Banzo I, Irure J, Pegueroles J, Illan I, Fortea J, Rodriguez E, Lleo A, Garcia CE, Sanchez P. Distinctive Oculomotor Behaviors in Alzheimer’s Disease and Frontotemporal Dementia. Frontiers in Aging Neuroscience. 2021; 12:603790. DOI:10.3389/fnagi.2020.603790. PMID:33613262. IF: 5,702
Lawingco T, Chaudhury S, Brookes KJ, Guetta T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, A beta-, and tau-related pathways determine polygenic risk for Alzheimer’s disease. NEUROBIOLOGY OF AGING. 2021; 101. DOI:10.1016/j.neurobiolaging.2020.11.009. PMID:33303219. IF: 5,133
Ledreux A, Thomas S, Hamlett ED, Trautman C, Gilmore A, Hager ER, Paredes DA, Margittai M, Fortea J, Granholm AC. Small Neuron-Derived Extracellular Vesicles from Individuals with Down Syndrome Propagate Tau Pathology in the Wildtype Mouse Brain. Journal of Clinical Medicine. 2021; 10(17):3931. DOI:10.3390/jcm10173931. PMID:34501378. IF: 4,964
Lleo A, Carmona M, Videla L, Fernandez S, Benejam B, Pegueroles J, Barroeta I, Altuna M, Valldeneu S, Xiao MF, Xu DS, Nunez R, Querol M, Sirisi S, Bejanin A, Iulita MF, Clarimon J, Blesa R, Worley P, Alcolea D, Fortea J, Belbin O. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome. Alzheimers Research & Therapy. 2021; 13(1):119. DOI:10.1186/s13195-021-00861-0. PMID:34183050. IF: 8,823
Lleo A, Zetterberg H, Pegueroles J, Karikari TK, Carmona M, Ashton NJ, Montal V, Barroeta I, Lantero J, Videla L, Altuna M, Benejam B, Fernandez S, Valldeneu S, Garzon D, Bejanin A, Iulita MF, Camacho V, Medrano S, Belbin O, Clarimon J, Lehmann S, Alcolea D, Blesa R, Blennow K, Fortea J. Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome. Nature Communications. 2021; 12(1):4304. DOI:10.1038/s41467-021-24319-x. PMID:34262030. IF: 17,694
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Montal V, Barroeta I, Bejanin A, Pegueroles J, Carmona M, Altuna M, Benejam B, Videla L, Fernandez S, Padilla C, Aranha MR, Iulita MF, Vidal D, Alcolea D, Blesa R, Lleo A, Fortea J. Metabolite Signature of Alzheimer’s Disease in Adults with Down Syndrome. ANNALS OF NEUROLOGY. 2021; 90(3). DOI:10.1002/ana.26178. PMID:34309066. IF: 11,274
Montal V, Vilaplana E, Pegueroles J, Bejanin A, Alcolea D, Carmona M, Clarimon J, Levin J, Cruchaga C, Graff NR, Noble JM, Lee JH, Allegri R, Karch CM, Laske C, Schofield PR, Salloway S, Ances B, Benzinger T, McDale E, Bateman R, Blesa R, Sanchez R, Lleo A, Fortea J, D. Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12224. PMID:33196147. IF: 16,655
Moreno S, Fernandez MV, de Rojas I, Garcia P, Hernandez I, Farias F, Budde JP, Quintela I, Madrid L, Gonzalez A, Montrreal L, Alarcon E, Alegret M, Maronas O, Pineda JA, Macias J, Marquie M, Valero S, Benaque A, Clarimon J, Bullido MJ, Garcia G, Pastor P, Sanchez P, Alvarez V, Pinol G, Garcia JM, Royo JL, Franco E, Mir P, et al. [Blesa R, Fortea J, Lleó A]. Long runs of homozygosity are associated with Alzheimer’s disease. Translational Psychiatry. 2021; 11(1):142. DOI:10.1038/s41398-020-01145-1. PMID:33627629. IF: 7,989
Pagonabarraga J, Horta A, Busteed L, Bejr H, Illan I, Aracil I, Marin J, Pascual B, Perez J, Campolongo A, Izquierdo C, Martinez S, Sampedro F, Kulisevsky J. Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy. PARKINSONISM & RELATED DISORDERS. 2021; 85. DOI:10.1016/j.parkreldis.2021.03.002. PMID:33744691. IF: 4,402
Pegueroles J, Montal V, Bejanin A, Vilaplana E, Aranha M, Santos MA, Alcolea D, Carrio I, Camacho V, Blesa R, Lleo A, Fortea J. AMYQ: An index to standardize quantitative amyloid load across PET tracers. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12317. PMID:33797846. IF: 16,655
Pentz R, Iulita MF, Ducatenzeiler A, Videla L, Benejam B, Iragui MC, Blesa R, Lleo A, Fortea J, Cuello AC. Nerve growth factor (NGF) pathway biomarkers in Down syndrome prior to and after the onset of clinical Alzheimer’s disease: A paired CSF and plasma study. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12229. PMID:33226181. IF: 16,655
Pentz R, Iulita MF, Mikutra M, Ducatenzeiler A, Bennett DA, Cuello AC. A new role for matrix metalloproteinase-3 in the NGF metabolic pathway: Proteolysis of mature NGF and sex-specific differences in the continuum of Alzheimer’s pathology. NEUROBIOLOGY OF DISEASE. 2021; 148:105150. DOI:10.1016/j.nbd.2020.105150. PMID:33130223. IF: 7,046
Pentz R, Iulita MF. The NGF Metabolic Pathway: New Opportunities for Biomarker Research and Drug Target Discovery NGF Pathway Biomarkers and Drug Targets. Advances in Experimental Medicine and Biology. 2021; 1331. DOI:10.1007/978-3-030-74046-7_4. PMID:34453291. IF: 3,650
Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas HD, Zaman S, Wang MC, Tycko B, Lee JH, Handen B, Hartley S, Fortea J, O’Bryant S, Alzheimers C. Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer’s Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(2). DOI:10.3233/JAD-201167. PMID:33337378. IF: 4,160
Peyron PA, Colomb S, Becas D, Adriansen A, Gauchotte G, Tiers L, Marin G, Lehmann S, Baccino E, Delaby C, Hirtz C. Cytokines as new biomarkers of skin wound vitality. INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(6):2537-2545. DOI:10.1007/s00414-021-02659-z. PMID: 34313846. IF: 2,791
Peyron PA, Hirtz C, Baccino E, Ginestet N, Tiers L, Martinez AY, Lehmann S, Delaby C. Tau protein in cerebrospinal fluid: a novel biomarker of the time of death? INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(5):2081-2089. DOI:10.1007/s00414-021-02558-3. PMID: 33740116. IF: 2,791
Reus LM, Pasaniuc B, Posthuma D, Boltz T, Pijnenburg Y, Ophoff RA, Lleó A, Blesa R, Ophoff RA. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. BIOLOGICAL PSYCHIATRY. 2021; 89(8). DOI:10.1016/j.biopsych.2020.12.023. PMID:33637304. IF: 12,810
Rodriguez E, Montal V, Sepulcre J, Lois C, Hanseeuw B, Vilaplana E, Schultz AP, Properzi MJ, Scott MR, Amariglio R, Papp KV, Marshall GA, Fortea J, Johnson KA, Sperling RA, Vannini P. Association of cortical microstructure with amyloid-beta and tau: impact on cognitive decline, neurodegeneration, and clinical progression in older adults. MOLECULAR PSYCHIATRY. 2021; 26(12). DOI:10.1038/s41380-021-01290-z. PMID:34588623. IF: 13,437
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; EU EOD Consortium, Bruni AC, Anfossi M, Bernardi L, Maletta R, Serpente M, Galimberti D, Scarpini E, Rossi G, Caroppo P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Antonell A, et al. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of Aging. 2021;99:99.e15-99.e22. DOI:10.1016/j.neurobiolaging. 2020.08.018. PMID: 32972771. IF: 5,133
Rujeedawa T, Félez EC, Clare ICH, Fortea J, Strydom A, Rebillat A-S, Coppus A, Levin J, Zaman SH. The clinical and neuropathological features of sporadic (Late-onset) and genetic forms of alzheimer’s disease. Journal of Clinical Medicine. 2021; 10(19):4582. DOI:10.3390/jcm10194582. PMID:34640600. IF: 4,964
Shi L, Buckley NJJ, Bos I, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleo A, Popp J, Martinez P, Legido C, Barkhof F, Zetterberg H, Visser PJ, Bertram L, Lovestone S, Nevado AJ. Plasma Proteomic Biomarkers Relating to Alzheimer’s Disease: A Meta-Analysis Based on Our Own Studies. Frontiers in Aging Neuroscience. 2021; 13:712545. DOI:10.3389/fnagi.2021.712545. PMID:34366831. IF: 5,702
Shi L, Winchester LM, Westwood S, Baird AL, Anand SN, Buckley NJ, Hye A, Ashton NJ, Bos I, Vos SJB, ten M, Scheltens P, Teunissen CE, Vandenberghe R, Gabel S, Meersmans K, Engelborghs S, De Roeck EE, Sleegers K, Frisoni GB, Blin O, Richardson JC, Bordet R, Molinuevo JL, Rami L, Wallin A, Kettunen P, Tsolaki M, Verhey F, Lleo A, Sala I, et al. Replication study of plasma proteins relating to Alzheimer’s pathology. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12322. PMID:33792144. IF: 16,655
Solana E, Martinez E, Montal V, Vilaplana E, Lopez E, Radua J, Sola N, Montejo C, Blanco Y, Pulido I, Sepulveda M, Andorra M, Berenguer J, Villoslada P, Martinez EH, Prados F, Saiz A, Fortea J, Llufriu S. Regional grey matter microstructural changes and volume loss according to disease duration in multiple sclerosis patients. Scientific Reports. 2021; 11(1):16805. DOI:10.1038/s41598-021-96132-x. PMID:34413373. IF: 4,996
Stantonyonge N, Martinez S, Sampedro F, Sanchez MB, Chico A. Defective involuntary attention to novelty in type 1 diabetes and impaired awareness of hypoglycaemia. DIABETES RESEARCH AND CLINICAL PRACTICE. 2021; 177:108898. DOI:10.1016/j.diabres.2021.108898. PMID:34098058. IF: 8,180
Storm CS, Kia DA, Almramhi MM, Bandres S, Finan C, Hingorani AD, Wood NW, Clarimón J, Dols O, Kulisevsky J, Marín J, Pagonabarraga J, Lynch TL. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome. Nature Communications. 2021; 12(1):7342. DOI:10.1038/s41467-021-26280-1. PMID:34930919. IF: 17,694
Tort A, Valech N, Laine M, Olives J, Leon M, Ecay M, Estanga A, Martinez P, Fortea J, Molinuevo JL, Sanchez R, Rodriguez A, Rami L. Accelerated long-term forgetting in individuals with subjective cognitive decline and amyloid-beta positivity. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021; 36(7). DOI:10.1002/gps.5539. PMID:33792089. IF: 3,850
Tort-Merino A, Laine M, Valech N, Olives J, León M, Ecay-Torres M, Estanga A, Martínez-Lage P, Fortea J, Sánchez-Valle R, Rami L, Rodríguez-Fornells A. Accelerated long-term forgetting over three months in asymptomatic APOE ɛ4 carriers. Annals of Clinical and Translational Neurology. 2021;8(2):477-484. DOI:10.1002/acn3.51245. PMID: 33369208. IF: 5,430
van der Ende EL, Morenas E, McMillan C, Grossman M, Irwin D, Sanchez R, Graff C, Vandenberghe R, Pijnenburg Y, Laforce R, Le I, Lleo A, Haass C, Suarez M, van JC, Seelaar H. CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia. NEUROBIOLOGY OF AGING. 2021; 103. DOI:10.1016/j.neurobiolaging.2021.02.024. PMID:33896652. IF: 5,133
van LJCV, Ghafoorian M, van E, Claassen J, Arighi A, Bozzali M, Cannas J, Cavedo E, Eusebi P, Farotti L, Fenoglio C, Fortea J, Frisoni GB, Galimberti D, Greco V, Herukka SK, Liu YW, Lleo A, de Mendonca A, Nobili FM, Parnetti L, Picco A, Pikkarainen M, Salvadori N, Scarpini E, Soininen H, Tarducci R, Urbani A, Vilaplana E, Meulenbroek O, Platel B, Verbeek MM, Kuiperij HB. White Matter Hyperintensities Are No Major Confounder for Alzheimer’s Disease Cerebrospinal Fluid Biomarkers. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(1). DOI:10.3233/JAD-200496. PMID:33252070. IF: 2,632
Ximelis T, Marin A, Espinosa JC, Erana H, Charco JM, Hernandez I, Riveira C, Alcolea D, Gonzalez E, Aldecoa I, Molina L, Parchi P, Rossi M, Castilla J, Ruiz R, Gelpi E, Torres JM, Sanchez R. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. Alzheimers Research & Therapy. 2021; 13(1):176. DOI:10.1186/s13195-021-00912-6. PMID:34663460. IF: 8,823
Xu J, Green R, Kim M, Lord J, Ebshiana A, Westwood S, Baird AL, Nevado AJ, Shi L, Hye A, Snowden SG, Bos I, Vos SJB, Vandenberghe R, Teunissen CE, Kate MT, Scheltens P, Gabel S, Meersmans K, Blin O, Richardson J, De Roeck EE, Engelborghs S, Sleegers K, Bordet R, Rami L, Kettunen P, Tsolaki M, Verhey FRJ, Alcolea D, Lleo A, Peyratout G, et al. Sex-Specific Metabolic Pathways Were Associated with Alzheimer’s Disease (AD) Endophenotypes in the European Medical Information Framework for AD Multimodal Biomarker Discovery Cohort. Biomedicines. 2021; 9(11):1610. DOI:10.3390/biomedicines9111610. PMID:34829839. IF: 4,757
Younes K, Rojas JC, Wolf A, Sheng GM, Paoletti M, Toller G, Caverzasi E, Mandelli ML, Illan I, Kramer JH, Cobigo Y, Miller BL, Rosen HJ, Geschwind MD. Selective vulnerability to atrophy in sporadic Creutzfeldt-Jakob disease. Annals of Clinical and Translational Neurology. 2021; 8(6). DOI:10.1002/acn3.51290. PMID:33949799. IF: 5,430
Zhu N, Santos M, Illan I, Montal V, Estelles T, Barroeta I, Altuna M, Arranz J, Munoz L, Belbin O, Sala I, Sanchez MB, Subirana A, Videla L, Pegueroles J, Blesa R, Clarimon J, Carmona M, Fortea J, Lleo A, Alcolea D. Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia. Translational Neurodegeneration. 2021; 10(1):50. DOI:10.1186/s40035-021-00275-w. PMID:34893073. IF: 9,883

Publicacions 2020

IF: 4,3790

IF: 5,7500

IF: 14,1950

IF: 3,1690

IF: 3,1390

IF: 5,3570

IF: 4,6730

Clarimón J. Genetic-environmental factors finally assessed together in Parkinson’s disease. J NEUROL NEUROSUR PS. 2020 Oct;91(10):1030. doi: 10.1136/jnnp-2020-324472.PMID: 32934106.

IF: 10,1540

Clarimon J., Moreno-Grau S., Cervera-Carles L., Dols-Icardo O., Sanchez-Juan P., Ruiz A. (2020) Genetic architecture of neurodegenerative dementias. NEUROPHARMACOLOGY, 168 (), -.

IF: 5,2500

IF: 9,9100

IF: 4,3790

IF: 8,4850

IF: 4,4720

IF: 79,3210

Hauser WA, Lleo A, Schmolck H. Dementia and epilepsy: Not a one-way street. Neurology. 2020 Dec 15;95(24):1074-1075. doi: 10.1212/WNL.0000000000011084. PMID: 33097601.

IF: 9,9100

IF: 8,0900

IF: 6,2220

IF: 9,9100

Kamer A.R., Craig R.G., Niederman R., Fortea J., de Leon M.J. (2020) Periodontal disease as a possible cause for Alzheimer's disease. PERIODONTOL 2000, 83 (1), 242-271.

IF: 7,5890

IF: 6,9820

IF: 4,6730

IF: 6,9820

IF: 6,3180

IF: 6,6000

Lopez-Mora D.A., Fernandez Leon A., Lleo A., Blesa R., Camacho V. (2020) The Added Value of Tau-PET in the Assessment of Progressive Supranuclear Palsy. CLIN NUCL MED, 45 (5), E239-E240.

IF: 7,7940

IF: 10,1540

IF: 21,5660

IF: 8,4850

IF: 2,0350

IF: 4,6730

IF: 3,3880

IF: 4,4720

IF: 21,5660

IF: 13,5010

IF: 4,5110

IF: 17,0880

IF: 6,2500

IF: 9,9100

IF: 4,4720

MALALTIES NEUROLòGIQUES, NEUROCIèNCIA I SALUT MENTAL

Neurobiologia de les Demències

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Publicacions 2020

https://santpaumemoryunit.com

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Publicacions 2021

Publicacions 2020

Institut de recerca de l’hospital de la santa creu i sant pau