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113 results

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Page 1
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Pasternak M, et al. Alzheimers Dement. 2024 May;20(5):3525-3542. doi: 10.1002/alz.13750. Epub 2024 Apr 16. Alzheimers Dement. 2024. PMID: 38623902 Free PMC article. Italian.
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL; Frontotempor… See abstract for full author list ➔ Staffaroni AM, et al. Nat Med. 2022 Oct;28(10):2194-2206. doi: 10.1038/s41591-022-01942-9. Epub 2022 Sep 22. Nat Med. 2022. PMID: 36138153 Free PMC article.
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.
Young AL, Marinescu RV, Oxtoby NP, Bocchetta M, Yong K, Firth NC, Cash DM, Thomas DL, Dick KM, Cardoso J, van Swieten J, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, de Mendonça A, Sorbi S, Warren JD, Crutch S, Fox NC, Ourselin S, Schott JM, Rohrer JD, Alexander DC; Genetic FTD Initiative (GENFI); Alzheimer’s Disease Neuroimaging Initiative (ADNI). Young AL, et al. Nat Commun. 2018 Oct 15;9(1):4273. doi: 10.1038/s41467-018-05892-0. Nat Commun. 2018. PMID: 30323170 Free PMC article.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: van minkelen r. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
Altered plasma protein profiles in genetic FTD - a GENFI study.
Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tirabosch P, Santana I, Ducharme S, Butler CR, Gerhard A, Otto M, Bouzigues A, Russell L, Swift IJ, Sogorb-Esteve A, Heller C, Rohrer JD, Månberg A, Nilsson P, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI). Ullgren A, et al. Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6. Mol Neurodegener. 2023. PMID: 37968725 Free PMC article.
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
Benussi A, Premi E, Grassi M, Alberici A, Cantoni V, Gazzina S, Archetti S, Gasparotti R, Fumagalli GG, Bouzigues A, Russell LL, Samra K, Cash DM, Bocchetta M, Todd EG, Convery RS, Swift I, Sogorb-Esteve A, Heller C, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce RJ, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, Mendonça A, Tiraboschi P, Butler CR, Santana I, Gerhard A, Le Ber I, Pasquier F, Ducharme S, Levin J, Sorbi S, Otto M, Padovani A, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Benussi A, et al. Alzheimers Res Ther. 2024 Jan 12;16(1):10. doi: 10.1186/s13195-024-01383-1. Alzheimers Res Ther. 2024. PMID: 38216961 Free PMC article.
Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study.
Premi E, Diano M, Mattioli I, Altomare D, Cantoni V, Bocchetta M, Gasparotti R, Buratti E, Pengo M, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Heller C, van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Sanchez-Valle R, Galimberti D, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Finger E, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Synofzik M, Levin J, Otto M, Sorbi S, Rohrer JD, Borroni B; Coinvestigators GENFI Consortium. Premi E, et al. Brain Commun. 2024 Jun 14;6(4):fcae185. doi: 10.1093/braincomms/fcae185. eCollection 2024. Brain Commun. 2024. PMID: 39015769 Free PMC article.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: van minkelen r. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Finger E, Malik R, Bocchetta M, Coleman K, Graff C, Borroni B, Masellis M, Laforce R, Greaves CV, Russell LL, Convery RS, Bouzigues A, Cash DM, Otto M, Synofzik M, Rowe JB, Galimberti D, Tiraboschi P, Bartha R, Shoesmith C, Tartaglia MC, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Gerhard A, Sanchez-Valle R, de Mendonça A, Moreno F, Vandenberghe R, Le Ber I, Levin J, Pasquier F, Santana I, Rohrer JD, Ducharme S; Genetic FTD Initiative, GENFI. Finger E, et al. Brain. 2023 May 2;146(5):2120-2131. doi: 10.1093/brain/awac446. Brain. 2023. PMID: 36458975
113 results