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Items: 1 to 50 of 142

1.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach S, Hoffmann P, Prestia FA, Galeano P, Avalos MSS, Martinez LE, Carulla ME, Azurmendi PJ, Liberczuk C, Fezza C, Sampaño M, Fierens M, Jemar G, Solis P, Medel N, Lisso J, Sevillano Z, Bosco P, Bossù P, Spalletta G, Galimberti D, Mancuso M, Nacmias B, Sorbi S, Mecocci P, Pilotto A, Caffarra P, Panza F, Bullido M, Clarimon J, Sánchez-Juan P, Coto E, Sanchez-Garcia F, Graff C, Ingelsson M, Bellenguez C, Castaño EM, Kairiyama C, Politis DG, Kochen S, Scaro H, Maier W, Jessen F, Mangone CA, Lambert JC, Morelli L, Ramirez A.

Transl Psychiatry. 2019 Jan 31;9(1):55. doi: 10.1038/s41398-019-0394-9.

2.

Changes in synaptic proteins precede neurodegeneration markers in preclinical Alzheimer's disease cerebrospinal fluid.

Lleó A, Núñez-Llaves R, Alcolea D, Chiva C, Balateu-Paños D, Colom-Cadena M, Gomez-Giro G, Muñoz L, Querol-Vilaseca M, Pegueroles J, Rami L, Lladó A, Molinuevo J, Tainta M, Clarimón J, Spires-Jones T, Blesa R, Fortea J, Martínez-Lage P, Sánchez-Valle R, Sabidó E, Bayés À, Belbin O.

Mol Cell Proteomics. 2019 Jan 3. pii: mcp.RA118.001290. doi: 10.1074/mcp.RA118.001290. [Epub ahead of print]

3.

HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease.

Menéndez-González M, Clarimón J, Rosas-Allende I, Blázquez M, San Martín ES, García-Fernández C, Lleó A, Dols-Icardo O, Illán-Gala I, Morís G, Ribacoba R, Álvarez V, Martínez C.

Neurobiol Aging. 2018 Nov 28. pii: S0197-4580(18)30415-9. doi: 10.1016/j.neurobiolaging.2018.11.014. [Epub ahead of print]

PMID:
30583877
4.

A comprehensive screening of copy number variability in dementia with Lewy bodies.

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, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Guerreiro R, Bras J.

Neurobiol Aging. 2019 Mar;75:223.e1-223.e10. doi: 10.1016/j.neurobiolaging.2018.10.019. Epub 2018 Oct 24.

PMID:
30448004
5.

Obesity and Alzheimer's disease, does the obesity paradox really exist? A magnetic resonance imaging study.

Pegueroles J, Jiménez A, Vilaplana E, Montal V, Carmona-Iragui M, Pané A, Alcolea D, Videla L, Casajoana A, Clarimón J, Ortega E, Vidal J, Blesa R, Lleó A, Fortea J; Alzheimer's Disease Neuroimaging Initiative.

Oncotarget. 2018 Oct 5;9(78):34691-34698. doi: 10.18632/oncotarget.26162. eCollection 2018 Oct 5.

6.

Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.

Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E.

Neuropathol Appl Neurobiol. 2018 Oct 29. doi: 10.1111/nan.12527. [Epub ahead of print] No abstract available.

PMID:
30375034
7.

Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers.

Ramos de Matos M, Ferreira C, Herukka SK, Soininen H, Janeiro A, Santana I, Baldeiras I, Almeida MR, Lleó A, Dols-Icardo O, Alcolea D, Benussi L, Binetti G, Paterlini A, Ghidoni R, Nacmias B, Meulenbroek O, van Waalwijk van Doorn LJC, Kuiperi HBJ, Hausner L, Waldemar G, Simonsen AH, Tsolaki M, Gkatzima O, Resende de Oliveira C, Verbeek MM, Clarimon J, Hiltunen M, de Mendonça A, Martins M.

J Alzheimers Dis. 2018;66(2):639-652. doi: 10.3233/JAD-180512.

PMID:
30320580
8.

Elevated YKL-40 and low sAPPβ:YKL-40 ratio in antemortem cerebrospinal fluid of patients with pathologically confirmed FTLD.

Alcolea D, Irwin DJ, Illán-Gala I, Muñoz L, Clarimón J, McMillan CT, Fortea J, Blesa R, Lee EB, Trojanowski JQ, Grossman M, Lleó A.

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):180-186. doi: 10.1136/jnnp-2018-318993. Epub 2018 Oct 8.

PMID:
30297518
9.

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum.

Illán-Gala I, Alcolea D, Montal V, Dols-Icardo O, Muñoz L, de Luna N, Turón-Sans J, Cortés-Vicente E, Sánchez-Saudinós MB, Subirana A, Sala I, Blesa R, Clarimón J, Fortea J, Rojas-García R, Lleó A.

Neurology. 2018 Oct 23;91(17):e1619-e1628. doi: 10.1212/WNL.0000000000006383. Epub 2018 Oct 5.

PMID:
30291183
10.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

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, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC) .

Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238.

11.

Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.

Fortea J, Carmona-Iragui M, Benejam B, Fernández S, Videla L, Barroeta I, Alcolea D, Pegueroles J, Muñoz L, Belbin O, de Leon MJ, Maceski AM, Hirtz C, Clarimón J, Videla S, Delaby C, Lehmann S, Blesa R, Lleó A.

Lancet Neurol. 2018 Oct;17(10):860-869. doi: 10.1016/S1474-4422(18)30285-0. Epub 2018 Aug 29.

PMID:
30172624
12.

Cerebrospinal fluid mitochondrial DNA levels in patients with multiple sclerosis.

Fissolo N, Cervera-Carles L, Villar Guimerans LM, Lleó A, Clarimón J, Drulovic J, Dujmovic I, Voortman M, Khalil M, Gil E, Navarro L, Álvarez-Cermeño JC, Montalban X, Comabella M.

Mult Scler. 2018 Jul 1:1352458518786055. doi: 10.1177/1352458518786055. [Epub ahead of print]

PMID:
29985092
13.

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation.

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, Lladó A, Sanchez-Valle R, Gelpi E.

J Neuropathol Exp Neurol. 2018 Aug 1;77(8):703-709. doi: 10.1093/jnen/nly047.

PMID:
29889265
14.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

Cortés-Vicente E, Turon-Sans J, Gelpi E, Clarimón J, Borrego-Écija S, Dols-Icardo O, Illán-Gala I, Lleó A, Illa I, Blesa R, Al-Chalabi A, Rojas-García R.

Dement Geriatr Cogn Disord. 2018;45(3-4):220-231. doi: 10.1159/000488528. Epub 2018 Jun 8.

PMID:
29886477
15.

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

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, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23.

16.

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

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, Diez-Fairen M, Aguilar M, de Mendonça A, Miltenberger-Miltényi G, Hernández I, Boada M, Ruiz A, Nacmias B, Sorbi S, Almeida MR, Santana I, Clarimón J, Lleó A, Frisoni GB, Sanchez-Valle R, Lladó A, Gómez-Tortosa E, Gelpi E, Van den Broeck M, Peeters K, Cras P, De Deyn PP, Engelborghs S, Cruts M, Van Broeckhoven C; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17.

17.

Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.

Alonso-Jiménez A, Ramón C, Dols-Icardo O, Roig C, Gallardo E, Clarimón J, Núñez-Peralta C, Díaz-Manera J.

Eur J Neurol. 2018 Feb;25(2):e25-e26. doi: 10.1111/ene.13545. No abstract available.

PMID:
29356264
18.

Weight loss in the healthy elderly might be a non-cognitive sign of preclinical Alzheimer's disease.

Jimenez A, Pegueroles J, Carmona-Iragui M, Vilaplana E, Montal V, Alcolea D, Videla L, Illán-Gala I, Pané A, Casajoana A, Belbin O, Clarimón J, Moizé V, Vidal J, Lleó A, Fortea J, Blesa R; Alzheimer's Disease Neuroimaging Initiative.

Oncotarget. 2017 Oct 31;8(62):104706-104716. doi: 10.18632/oncotarget.22218. eCollection 2017 Dec 1.

19.

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

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, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Bras J.

Lancet Neurol. 2018 Jan;17(1):64-74. doi: 10.1016/S1474-4422(17)30400-3. Epub 2017 Dec 16.

20.

Synaptic phosphorylated α-synuclein in dementia with Lewy bodies.

Colom-Cadena M, Pegueroles J, Herrmann AG, Henstridge CM, Muñoz L, Querol-Vilaseca M, Martín-Paniello CS, Luque-Cabecerans J, Clarimon J, Belbin O, Núñez-Llaves R, Blesa R, Smith C, McKenzie CA, Frosch MP, Roe A, Fortea J, Andilla J, Loza-Alvarez P, Gelpi E, Hyman BT, Spires-Jones TL, Lleó A.

Brain. 2017 Dec 1;140(12):3204-3214. doi: 10.1093/brain/awx275.

21.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

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, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25.

22.

Cortical microstructural changes along the Alzheimer's disease continuum.

Montal V, Vilaplana E, Alcolea D, Pegueroles J, Pasternak O, González-Ortiz S, Clarimón J, Carmona-Iragui M, Illán-Gala I, Morenas-Rodríguez E, Ribosa-Nogué R, Sala I, Sánchez-Saudinós MB, García-Sebastian M, Villanúa J, Izagirre A, Estanga A, Ecay-Torres M, Iriondo A, Clerigue M, Tainta M, Pozueta A, González A, Martínez-Heras E, Llufriu S, Blesa R, Sanchez-Juan P, Martínez-Lage P, Lleó A, Fortea J.

Alzheimers Dement. 2018 Mar;14(3):340-351. doi: 10.1016/j.jalz.2017.09.013. Epub 2017 Oct 31.

PMID:
29080407
23.

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.

Dols-Icardo O, García-Redondo A, Rojas-García R, Borrego-Hernández D, Illán-Gala I, Muñoz-Blanco JL, Rábano A, Cervera-Carles L, Juárez-Rufián A, Spataro N, De Luna N, Galán L, Cortes-Vicente E, Fortea J, Blesa R, Grau-Rivera O, Lleó A, Esteban-Pérez J, Gelpi E, Clarimón J.

J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):162-168. doi: 10.1136/jnnp-2017-316820. Epub 2017 Sep 9.

PMID:
28889094
24.

Incidental neuronal intermediate filament inclusion pathology: unexpected biopsy findings in a 37-year-old woman with epilepsy.

Gelpi E, Carrato C, Grau-López L, Becerra JL, Garcia-Armengol R, Massuet A, Cervera-Carles L, Clarimon J, Beyer K, Álvarez R.

Neuropathol Appl Neurobiol. 2017 Dec;43(7):636-640. doi: 10.1111/nan.12441. No abstract available.

PMID:
28880406
25.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

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, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT Jr, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J; ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK; GERAD/PERADES, CHARGE, ADGC, EADI, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimón J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD.

Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

26.

YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies.

Querol-Vilaseca M, Colom-Cadena M, Pegueroles J, San Martín-Paniello C, Clarimon J, Belbin O, Fortea J, Lleó A.

J Neuroinflammation. 2017 Jun 9;14(1):118. doi: 10.1186/s12974-017-0893-7.

27.

CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration.

Alcolea D, Vilaplana E, Suárez-Calvet M, Illán-Gala I, Blesa R, Clarimón J, Lladó A, Sánchez-Valle R, Molinuevo JL, García-Ribas G, Compta Y, Martí MJ, Piñol-Ripoll G, Amer-Ferrer G, Noguera A, García-Martín A, Fortea J, Lleó A.

Neurology. 2017 Jul 11;89(2):178-188. doi: 10.1212/WNL.0000000000004088. Epub 2017 Jun 7.

PMID:
28592456
28.

Diagnostic and Prognostic Value of the Combination of Two Measures of Verbal Memory in Mild Cognitive Impairment due to Alzheimer's Disease.

Sala I, Illán-Gala I, Alcolea D, Sánchez-Saudinós MB, Salgado SA, Morenas-Rodríguez E, Subirana A, Videla L, Clarimón J, Carmona-Iragui M, Ribosa-Nogué R, Blesa R, Fortea J, Lleó A.

J Alzheimers Dis. 2017;58(3):909-918. doi: 10.3233/JAD-170073.

PMID:
28527215
29.

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Carmona-Iragui M, Balasa M, Benejam B, Alcolea D, Fernández S, Videla L, Sala I, Sánchez-Saudinós MB, Morenas-Rodriguez E, Ribosa-Nogué R, Illán-Gala I, Gonzalez-Ortiz S, Clarimón J, Schmitt F, Powell DK, Bosch B, Lladó A, Rafii MS, Head E, Molinuevo JL, Blesa R, Videla S, Lleó A, Sánchez-Valle R, Fortea J.

Alzheimers Dement. 2017 Nov;13(11):1251-1260. doi: 10.1016/j.jalz.2017.03.007. Epub 2017 Apr 29.

30.

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

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, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium.

Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27.

31.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

Cortés-Vicente E, Pradas J, Marín-Lahoz J, De Luna N, Clarimón J, Turon-Sans J, Gelpí E, Díaz-Manera J, Illa I, Rojas-Garcia R.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):333-340. doi: 10.1080/21678421.2017.1316408. Epub 2017 Apr 25.

PMID:
28440098
32.

Regional Overlap of Pathologies in Lewy Body Disorders.

Colom-Cadena M, Grau-Rivera O, Planellas L, Cerquera C, Morenas E, Helgueta S, Muñoz L, Kulisevsky J, Martí MJ, Tolosa E, Clarimon J, Lleó A, Gelpi E.

J Neuropathol Exp Neurol. 2017 Mar 1;76(3):216-224. doi: 10.1093/jnen/nlx002.

PMID:
28395086
33.

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.

Spataro N, Roca-Umbert A, Cervera-Carles L, Vallès M, Anglada R, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Kulisevsky J, Casals F, Clarimón J, Bosch E.

Mov Disord. 2017 Jan;32(1):165-169. doi: 10.1002/mds.26845. Epub 2016 Nov 7.

34.

Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum.

Cervera-Carles L, Alcolea D, Estanga A, Ecay-Torres M, Izagirre A, Clerigué M, García-Sebastián M, Villanúa J, Escalas C, Blesa R, Martínez-Lage P, Lleó A, Fortea J, Clarimón J.

Neurobiol Aging. 2017 May;53:192.e1-192.e4. doi: 10.1016/j.neurobiolaging.2016.12.009. Epub 2016 Dec 22.

PMID:
28089353
35.

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

Tell-Marti G, Puig-Butille JA, Potrony M, Plana E, Badenas C, Antonell A, Sanchez-Valle R, Molinuevo JL, Lleó A, Alcolea D, Fortea J, Fernández-Santiago R, Clarimón J, Lladó A, Puig S.

J Alzheimers Dis. 2017;56(3):1065-1074. doi: 10.3233/JAD-161113.

36.

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S.

Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19.

37.

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C.

EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815. Print 2016 Nov.

38.

Longitudinal brain structural changes in preclinical Alzheimer's disease.

Pegueroles J, Vilaplana E, Montal V, Sampedro F, Alcolea D, Carmona-Iragui M, Clarimon J, Blesa R, Lleó A, Fortea J; Alzheimer's Disease Neuroimaging Initiative.

Alzheimers Dement. 2017 May;13(5):499-509. doi: 10.1016/j.jalz.2016.08.010. Epub 2016 Sep 28.

PMID:
27693189
39.

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

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, Holstege H, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Trojanowski JQ, Serrano GE, Beach TG, Clarimon J, Lleó A, Morenas-Rodríguez E, Lesage S, Galasko D, Masliah E, Santana I, Diez M, Pastor P, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Stone DJ, Pickering-Brown S, Mann D, Dickson DW, Halliday GM, Singleton A, Guerreiro R, Bras J.

Neurobiol Aging. 2017 Jan;49:214.e13-214.e15. doi: 10.1016/j.neurobiolaging.2016.08.023. Epub 2016 Sep 2.

40.

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R.

Neurobiol Aging. 2016 Oct;46:236.e1-6. doi: 10.1016/j.neurobiolaging.2016.06.018. Epub 2016 Jul 4.

41.

Conjoint FTLD-FUS of the neuronal intermediate filament inclusion disease type, progressive supranuclear palsy and Alzheimer's pathology presenting as parkinsonism with early falls and late hallucinations, psychosis and dementia.

Compta Y, Ramos-Campoy O, Grau-Rivera O, Colom-Cadena M, Clarimón J, Martí MJ, Gelpi E.

Neuropathol Appl Neurobiol. 2017 Jun;43(4):352-357. doi: 10.1111/nan.12340. No abstract available.

PMID:
27490935
42.

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

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, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K.

Acta Neuropathol. 2016 Aug;132(2):213-24. doi: 10.1007/s00401-016-1566-9. Epub 2016 Mar 30.

43.

Progranulin Protein Levels in Cerebrospinal Fluid in Primary Neurodegenerative Dementias.

Morenas-Rodríguez E, Cervera-Carles L, Vilaplana E, Alcolea D, Carmona-Iragui M, Dols-Icardo O, Ribosa-Nogué R, Muñoz-Llahuna L, Sala I, Belén Sánchez-Saudinós M, Blesa R, Clarimón J, Fortea J, Lleó A.

J Alzheimers Dis. 2016;50(2):539-46. doi: 10.3233/JAD-150746.

PMID:
26682689
44.

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, López de Munain A, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, Ortega-Cubero S, Pastor MA, Razquin C, Boada M, Hernández I, Gorostidi A, Moreno F, Zulaika M, Lladó A, Coto E, Combarros O, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO).

Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5.

PMID:
26675813
45.

Cerebrospinal Fluid Anti-Amyloid-β Autoantibodies and Amyloid PET in Cerebral Amyloid Angiopathy-Related Inflammation.

Carmona-Iragui M, Fernández-Arcos A, Alcolea D, Piazza F, Morenas-Rodriguez E, Antón-Aguirre S, Sala I, Clarimon J, Dols-Icardo O, Camacho V, Sampedro F, Munuera J, Nuñez-Marin F, Lleó A, Fortea J, Gómez-Ansón B, Blesa R.

J Alzheimers Dis. 2016;50(1):1-7. doi: 10.3233/JAD-150614.

PMID:
26639966
46.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I.

Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22.

PMID:
26573435
47.

Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases.

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.

Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):175-80. doi: 10.1002/ajmg.b.32390. Epub 2015 Oct 9.

PMID:
26453547
48.

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium.

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, Boada M, Lleó A, Dols-Icardo O, Kulisevsky J, Vázquez-Higuera JL, Infante J, Rábano A, Fernández-Blázquez MÁ, Valentí M, Indakoetxea B, Barandiarán M, Gorostidi A, Frank-García A, Sastre I, Lorenzo E, Pastor MA, Elcoroaristizabal X, Lennarz M, Maier W, Rámirez A, Serrano-Ríos M, Lee SE, Sánchez-Juan P; Dementia Genetic Spanish Consortium (DEGESCO).

J Alzheimers Dis. 2016;49(2):343-52. doi: 10.3233/JAD-150555.

PMID:
26444794
49.

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.

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, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Sanchez-Valle R, Lladó A, Gelpi E, Almeida MR, Santana I, Tsolaki M, Koutroumani M, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Borroni B, Padovani A, Matej R, Rohan Z, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cras P, van der Zee J, Sleegers K, Van Broeckhoven C; Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium.

Hum Mutat. 2015 Dec;36(12):1226-35. doi: 10.1002/humu.22908. Epub 2015 Oct 14.

50.

APOE-by-sex interactions on brain structure and metabolism in healthy elderly controls.

Sampedro F, Vilaplana E, de Leon MJ, Alcolea D, Pegueroles J, Montal V, Carmona-Iragui M, Sala I, Sánchez-Saudinos MB, Antón-Aguirre S, Morenas-Rodríguez E, Camacho V, Falcón C, Pavía J, Ros D, Clarimón J, Blesa R, Lleó A, Fortea J; Alzheimer’s Disease Neuroimaging Initiative.

Oncotarget. 2015 Sep 29;6(29):26663-74. doi: 10.18632/oncotarget.5185.

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