Memòria Científica del Grup: 2017 Scientific Report – Genetics in Neurodegenerative Diseases
Memòria Científica del Grup: 2017 Scientific Report – Genetics in Neurodegenerative Diseases
FORTEA ORMAECHEA, JUAN FGS
jfortea@santpau.cat
Alcolea Rodriguez, Daniel Andres FGS
Alvarez Sanchez, Esther IR
Arranz Martinez, Javier FGS
Arriola Infante, Jose Enrique IR
Aumatell Escabias, Joaquim IR
Bejanin, Alexandre Pierre Armand IR
Belvis Nieto, Robert FGS
Benitez Amaro, Aleyda IR
Bueno Lopez, Ana IR
Carmona Iragui, Maria FGS
Carreras Vega, Mireia IR
Clos Batet, Susana IR
Del Hoyo Soriano, Laura IR
Dols Icardo, Oriol IR
Farre Maduell, Ariadna IR
Filella Merce, Julia IR
Flores Ramirez, Maria IR
Franquesa Mullerat, Maria IR
Garcia Castro, Jesus IR
Garcia Hernandez, Estefania IR
Gimenez Badia, Sandra FGS
Illan Gala, Ignacio FGS
Lleo Bisa, Alberto FGS
Lorente Gordillo, Oriol IR
Maure Blesa, Lucia IR
Morcillo Nieto, Alejandra Omaira IR
Mota Rodriguez, Cecilia IR
Muñoz Llahuna, Laia IR
Palmieri, Marisa Alejandra IR
Reyes Santiago, Daniel CIBERNED
Ribosa Nogue, Roser IR
Rodriguez Baz, Iñigo IR
Rozalem Aranha, Mateus IR
Rubio Guerra, Sara FGS
Sala Matavera, Isabel FGS
Sanchez Aced, Erika IR
Sanchez Lopez, Oriol CIBERNED
Sanchez Saudinos, Maria Belen IR
Sanjuan Hernandez, Aida IR
Santos Santos, Miguel Angel FGS
Selma Gonzalez, Judit IR
Sirisi Dolcet, Sonia IR
Torres Alcala, Soraya IR
Valldeneu Castells, Silvia IR
Valle Tamayo, Natalia IR
Vaque Alcazar, Lidia IR
Vera Campuzano, Elena IR
Videla Toro, Laura IR
Zhu, Nuole FGS
Zsadanyi, Sara Erzsebet IR
(JIF 2023)
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-de Luna N, Carbayo Á, Dols O, Turon J, Reyes D, Illan I, Jericó I, Pagola I, Lleixà C, Querol L, Rubio S, Alcolea D, Fortea J, Lleó A, Cortés E, Rojas R. Neuroinflammation-Related Proteins NOD2 and Spp1 Are Abnormally Upregulated in Amyotrophic Lateral Sclerosis. Neurology-Neuroimmunology & Neuroinflammation. 2023; 10(2):e200072. DOI:10.1212/NXI.0000000000200072. PMID:36460480. IF:7,800 (Q1/1D). Document type: Article.
-Del Campo M, Vermunt L, Peeters CFW, Sieben A, Hok YS, Lleó A, Alcolea D, van M, Engelborghs S, van JL, Arezoumandan S, Chen A, Irwin DJ, van der Flier WM, Lemstra AW, Teunissen CE. CSF proteome profiling reveals biomarkers to discriminate dementia with Lewy bodies from Alzheimer´s disease. Nature Communications. 2023; 14(1):5635. DOI:10.1038/s41467-023-41122-y. PMID:37704597. IF:14,700 (Q1/1D). Document type: Article.
-Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez S, Stark A, Chia R, García A, Rojas R, Vázquez JF, Fernandez R, Bandres S, Gómez P, Periñán MT, Mir P, Pérez J, Cardona F, Menendez M, Riancho J, Borrego D, Galán L, Infante J, Pastor P, Paradas C, Dols O, Traynor BJ, Feldman EL, Goutman SA, Spanish C. Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies. Neurology-Genetics. 2023; 9(4):e200079. DOI:10.1212/NXG.0000000000200079. PMID:37293291. IF:3,000 (Q2/4D). Document type: Article.
-Ferrer P, Puertollano D, Querol M, Sánchez É, Valle N, Cervantes A, Nuñez R, Pegueroles J, Dols O, Iulita MF, Aldecoa I, Molina L, Sánchez R, Fortea J, Belbin O, Sirisi S, Lleó A. Amyloid precursor protein ßCTF accumulates in synapses in sporadic and genetic forms of Alzheimer’s disease. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 2023; 49(1):e12879. DOI:10.1111/nan.12879. PMID:36702749. IF:4,000 (Q1/2D). Document type: Article.
-Fitri FI, Lage C, Mollayeva T, Santamaria H, Chan MLS, Cominetti MR, Daria T, Fallon G, Gately D, Gichu M, Gimenez S, Zuniga RG, Hadad R, Hill T, O’Kelly M, Martinez L, Modjaji P, Ngcobo N, Nowak R, Ogbuagu C, Roche M, Aguzzoli CS, Shin SY, Smith E, Yoseph SA, Zewde Y, Ayhan Y. Empathy as a crucial skill in disrupting disparities in global brain health. Frontiers in Neurology. 2023; 14:1189143. DOI:10.3389/fneur.2023.1189143. PMID:38162446. IF:2,700 (Q2/4D). Document type: Article.
-Fortea J, Garcia E, Garcia G, Canal N, Maurino J. Burnout among neurologists caring for patients with cognitive disorders in Spain. PLoS One. 2023; 18(5):e0286129. DOI:10.1371/journal.pone.0286129. PMID:37228146. IF:2,900 (Q1/3D). Document type: Article.
-Fortea J, Garcia E, Terrancle A, Galvez B, Diez V, Rebollo P, Maurino J, Garcia G. Attitudes of Neurologists Toward the Use of Biomarkers in the Diagnosis of Early Alzheimer’s Disease. JOURNAL OF ALZHEIMERS DISEASE. 2023; 93(1). DOI:10.3233/JAD-221160. PMID:36970902. IF:3,400 (Q2/4D). Document type: Article.
-Fortea J, Quiroz YT, Ryan NS. Lessons from Down syndrome and autosomal dominant Alzheimer’s disease. LANCET NEUROLOGY. 2023; 22(1). DOI:10.1016/S1474-4422(22)00437-9. PMID:36517171. IF:46,500 (Q1/1D). Document type: Editorial Material.
-Franzen S, Nuytemans K, Bourdage R, Caramelli P, Ellajosyula R, Finger E, Illan I, Loi SM, Morhardt D, Pijnenburg Y, Rascovsky K, Williams MM, Yokoyama JS, Alladi S, Ayhan Y, Broce I, Castro S, Coleman K, de Souza LC, Dacks PA, de Boer SCM, de Leon J, Dodge S, Grasso S, Gupta V, Gupta V, Ghoshal N, Kamath V, Kumfor F, Matias JA, Narme P, Nielsen TR, Okhuevbie D, Pina SD, Garcia RR, Scarioni M, Slachevsky A, Suarez A, Tee BL, Tsoy E, Ulugut H, Babulal GM, Onyike CU, ISTAART FTD, ISTAART Diversity Disparities P. zZ Gaps in clinical research in frontotemporal dementia: A call for diversity and disparities-focused research. Alzheimers & Dementia. 2023. DOI:10.1002/alz.13129. PMID:37270665. IF:13,000 (Q1/1D). Document type: Article.
-Friedberg A, Pasquini L, Diggs R, Glaubitz EA, Lopez L, Illán I, Iaccarino L, La Joie R, Mundada N, Knudtson M, Neylan K, Brown J, Allen IE, Rankin KP, Bonham LW, Yokoyama JS, Ramos EM, Geschwind DH, Spina S, Grinberg LT, Miller ZA, Kramer JH, Rosen H, Gorno ML, Rabinovici G, Seeley WW, Miller BL. Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia. JAMA Neurology. 2023; 80(4). DOI:10.1001/jamaneurol.2023.0001. PMID:36848111. IF:20,400 (Q1/1D). Document type: Article.
-Gagliardi G, Rodriguez E, Montal V, Sepulcre J, Diez I, Lois C, Hanseeuw B, Schultz AP, Properzi MJ, Papp KV, Marshall GA, Fortea J, Johnson KA, Sperling RA, Vannini P. Cortical microstructural changes predict tau accumulation and episodic memory decline in older adults harboring amyloid. Communications Medicine. 2023; 3(1):106. DOI:10.1038/s43856-023-00324-7. PMID:37528163. IF:5,400 (Q1/2D). Document type: Article.
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-Giménez S, Tapia IE, Fortea J, Levedowski D, Osorio R, Hendrix J, Hillerstrom H. Caregiver knowledge of obstructive sleep apnoea in Down syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2023; 67(1). DOI:10.1111/jir.12990. PMID:36416001. IF:2,100 (Q1/2D). Document type: Article.
-Gonzalez MC, Tovar DA, Alves G, Dalen I, Williams CH, Camacho M, Forsgren L, Backstrom D, Lawson RA, Macleod AD, Counsell CE, Paquet C, DeLena C, D’Antonio F, Pilotto A, Padovani A, Blanc F, Falup C, Lewis SJG, Rejdak K, Papuc E, Hort J, Nedelska Z, O’Brien J, Bonanni L, Marquie M, Boada M, Pytel V, Abdelnour C, Alcolea D, Beyer K, Tysnes OB, Aarsland D, Maple J. Cognitive and Motor Decline in Dementia with Lewy Bodies and Parkinson’s Disease Dementia. Movement Disorders Clinical Practice. 2023; 10(6). DOI:10.1002/mdc3.13752. PMID:37332651. IF:2,600 (Q2/5D). Document type: Article.
-Goossens J, González AC, Dewit N, Lidón L, Fortea J, Alcolea D, Lleó A, Belbin O, Vanmechelen E. Evaluation of cerebrospinal fluid levels of synaptic vesicle protein, VAMP-2, across the sporadic Alzheimer’s disease continuum. Alzheimers Research & Therapy. 2023; 15(1):186. DOI:10.1186/s13195-023-01336-0. PMID:37898760. IF:7,900 (Q1/1D). Document type: Article.
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-Guillén N, Contador J, Buongiorno M, Alvarez I, Culell N, Alcolea D, Lleó A, Fortea J, Piñol G, Carnes A, Ispierto ML, Vilas D, Puig A, Fernández A, Balasa M, Sánchez R, Lladó A. Agreement of cerebrospinal fluid biomarkers and amyloid-PET in a multicenter study. EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE. 2023; DOI:10.1007/s00406-023-01701-y. PMID:37898567. IF:3,500 (Q1/3D). Document type: Article.
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-Hok YS, Bolsewig K, Ruiters DN, Lleo A, Alcolea D, Lemstra AW, van der Flier WM, Teunissen CE, del Campo M. Thimet oligopeptidase as a potential CSF biomarker for Alzheimer’s disease: A cross-platform validation study. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2023; 15(3):e12456. DOI:10.1002/dad2.12456. PMID:37502019. IF:4,000 (Q1/2D). Document type: Article.
-Iulita MF, Bejanin A, Vilaplana E, Carmona M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, González S, Torres S, El Bennadi SE, Padilla C, Aranha MR, Estelles T, Illán I, Belbin O, Valle N, Camacho V, Blessing E, Osorio RS, Videla S, Lehmann S, Holland AJ, Zetterberg H, Blennow K, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A, Fortea J. Association of biological sex with clinical outcomes and biomarkers of Alzheimer’s disease in adults with Down syndrome. Brain Communications. 2023; 5(2):fcad074. DOI:10.1093/braincomms/fcad074. PMID:37056479. IF:4,100 (Q1/2D). Document type: Article.
-Lorca DL, Gajardo A, Mandelli ML, Illán I, Ezzes Z, Wauters LD, Battistella G, Bogley R, Ratnasiri B, Licata AE, Battista P, García AM, Tee BL, Lukic S, Boxer AL, Rosen HJ, Seeley WW, Grinberg LT, Spina S, Miller BL, Miller ZA, Henry ML, Dronkers NF, Gorno ML. Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum. BRAIN. 2023; DOI:10.1093/brain/awad327. PMID:37769652. IF:10,600 (Q1/1D). Document type: Article.
-Mansilla A, Canyelles M, Ferrer R, Arranz J, Rodriguez I, Zhu N, Rubio S, El Bounasri S, Sanchez O, Torres S, Fortea J, Lleo A, Alcolea D, Tondo M. Effects of storage conditions on the stability of blood-based markers for the diagnosis of Alzheimer’s disease. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2023; 61(9). DOI:10.1515/cclm-2023-0245. PMID:37083158. IF:3,800 (Q1/2D). Document type: Article.
-McGlinchey E, Iulita MF, Fortea J. Compounded inequality: racial disparity and Down syndrome. Lancet Public Health. 2023; 8(11). DOI:10.1016/S2468-2667(23)00213-X. IF:25,400 (Q1/1D). Document type: Letter.
-Montoliu L, Alcolea D, Ashton NJ, Pegueroles J, Levin J, Bosch B, Lantero J, Carmona M, Wagemann O, Balasa M, Kac PR, Barroeta I, Llado A, Brum WS, Videla L, Gonzalez F, Benejam B, Martinez J, Karikari TK, Nubling G, Bejanin A, Benedet AL, Blesa R, Lleo A, Blennow K, Sanchez R, Zetterberg H, Fortea J. Plasma and cerebrospinal fluid glial fibrillary acidic protein levels in adults with Down syndrome: a longitudinal cohort study. EBioMedicine. 2023; 90:104547. DOI:10.1016/j.ebiom.2023.104547. PMID:37002988. IF:9,700 (Q1/1D). Document type: Article.
-Mulet L, Solé C, Cabello M, Abellaneda K, Perellón R, Cattaneo G, Solana J, Alviarez V, Bargalló N, Tormos JM, Pascual A, Bartrés D, Vaqué L. Brain connectivity correlates of cognitive dispersion in a healthy middle-aged population: influence of subjective cognitive complaints. JOURNALS OF GERONTOLOGY SERIES B-PSYCHOLOGICAL SCIENCES AND SOCIAL SCIENCES. 2023; 78(11). DOI:10.1093/geronb/gbad114. PMID:37587033. IF:4,800 (Q1/1D). Document type: Article.
-Neumann A, Ohlei O, Küçükali F, Bos IJ, Timsina J, Vos S, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Scheltens P, Teunissen CE, Engelborghs S, Frisoni GB, Blin O, Richardson JC, Bordet R, Lleó A, Alcolea D, Popp J, Marsh TW, Gorijala P, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Van C, Tanzi RE, Ten M, Lill CM, Barkhof F, Cruchaga C, Lovestone S, Streffer J, Zetterberg H, Visser PJ, Sleegers K, Bertram L, EMIF &. Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning. Genome Medicine. 2023; 15(1):79. DOI:10.1186/s13073-023-01233-z. PMID:37794492. IF:10,400 (Q1/1D). Document type: Article.
-Olazarán J, Carnero C, Fortea J, Sánchez P, García G, Vinuela F, Martínez P, Boada M. Prevalence of treated patients with Alzheimer’s disease: current trends and COVID-19 impact. Alzheimers Research & Therapy. 2023; 15(1):130. DOI:10.1186/s13195-023-01271-0. PMID:37537656. IF:7,900 (Q1/1D). Document type: Article.
-Rafii MS, Fortea J. Down Syndrome in a New Era for Alzheimer Disease. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 2023; 330(22). DOI:10.1001/jama.2023.22924. PMID:37991807. IF:63,100 (Q1/1D). Document type: Article.
-Shi L, Xu J, Green R, Wretlind A, Homann J, Buckley NJ, Tijms BM, Vos SJB, Lill CM, Kate MT, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleó A, Popp J, Martinez P, Streffer J, Barkhof F, Zetterberg H, Visser PJ, Lovestone S, Bertram L, Nevado AJ, Proitsi P, Legido C. Multiomics profiling of human plasma and cerebrospinal fluid reveals ATN-derived networks and highlights causal links in Alzheimer’s disease. Alzheimers & Dementia. 2023; 19(8). DOI:10.1002/alz.12961. PMID:36790009. IF:13,000 (Q1/1D). Document type: Article.
-Trifunov S, Natera D, Carrera L, Codina A, Expósito J, Ortez C, Medina J, Alcala ST, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez C. Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen. Journal Of Neuromuscular Diseases. 2023; 10(4). DOI:10.3233/JND-230012. PMID:37038823. IF:3,200 (Q2/3D). Document type: Article.
-Videla L, Benejam B, Carmona M, Barroeta I, Fernández S, Arranz J, Azzahchi SE, Altuna M, Padilla C, Valldeneu S, Pegueroles J, Montal V, Aranha MR, Vaqué L, Iulita MF, Alcolea D, Bejanin A, Videla S, Blesa R, Lleó A, Fortea J. Cross-sectional versus longitudinal cognitive assessments for the diagnosis of symptomatic Alzheimer’s disease in adults with Down syndrome. Alzheimers & Dementia. 2023; 19(9). DOI:10.1002/alz.13073. PMID:37038748. IF:13,000 (Q1/1D). Document type: Article.
-Villarejo A, García E, Piñol G, del Olmo A, Viñuela F, Boada M, Franco E, de la Peña AI, Riverol M, Puig A, Abizanda P, Arroyo R, Baquero M, Feria I, Balasa M, Berbel A, Rodríguez E, Vieira A, Garcia G, Rodrigo S, Lleó A, Maurino J. Medical help-seeking intentions among patients with early Alzheimer’s disease. Frontiers in Psychiatry. 2023; 14:1290002. DOI:10.3389/fpsyt.2023.1290002. PMID:38173708. IF:3,200 (Q2/4D). Document type: Article.
(JIF 2022)