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Page 1
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: zulaica m. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, Hardy C, van Swieten JC, Seelaar H, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Warren JD, Rohrer JD, Russell LL; GENetic Frontotemporal dementia Initiative (GENFI). Samra K, et al. Brain Commun. 2023 Feb 17;5(2):fcad036. doi: 10.1093/braincomms/fcad036. eCollection 2023. Brain Commun. 2023. PMID: 36938528 Free PMC article.
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.
Nelson A, Russell LL, Peakman G, Convery RS, Bouzigues A, Greaves CV, Bocchetta M, Cash DM, van Swieten JC, Jiskoot L, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI). Nelson A, et al. Ann Clin Transl Neurol. 2022 May;9(5):644-658. doi: 10.1002/acn3.51544. Epub 2022 Mar 26. Ann Clin Transl Neurol. 2022. PMID: 35950369 Free PMC article.
Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia.
van der Ende EL, Xiao M, Xu D, Poos JM, Panman JL, Jiskoot LC, Meeter LH, Dopper EG, Papma JM, Heller C, Convery R, Moore K, Bocchetta M, Neason M, Peakman G, Cash DM, Teunissen CE, Graff C, Synofzik M, Moreno F, Finger E, Sánchez-Valle R, Vandenberghe R, Laforce R Jr, Masellis M, Tartaglia MC, Rowe JB, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Pijnenburg YA, Otto M, Borroni B, Tagliavini F, de Mendonca A, Santana I, Galimberti D, Seelaar H, Rohrer JD, Worley PF, van Swieten JC; Genetic Frontotemporal Dementia Initiative (GENFI). van der Ende EL, et al. J Neurol Neurosurg Psychiatry. 2020 Jun;91(6):612-621. doi: 10.1136/jnnp-2019-322493. Epub 2020 Apr 9. J Neurol Neurosurg Psychiatry. 2020. PMID: 32273328 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.
Differential early subcortical involvement in genetic FTD within the GENFI cohort.
Bocchetta M, Todd EG, Peakman G, Cash DM, Convery RS, Russell LL, Thomas DL, Eugenio Iglesias J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI). Bocchetta M, et al. Neuroimage Clin. 2021;30:102646. doi: 10.1016/j.nicl.2021.102646. Epub 2021 Mar 29. Neuroimage Clin. 2021. PMID: 33895632 Free PMC article.
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI. Pérez-Millan A, et al. J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29. J Neurol. 2023. PMID: 36443488 Free 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.
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.
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.
Premi E, Calhoun VD, Diano M, Gazzina S, Cosseddu M, Alberici A, Archetti S, Paternicò D, Gasparotti R, van Swieten J, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe J, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni G, Cappa S, Sorbi S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative, GENFI. Premi E, et al. Neuroimage. 2019 Apr 1;189:645-654. doi: 10.1016/j.neuroimage.2019.01.080. Epub 2019 Feb 1. Neuroimage. 2019. PMID: 30716457 Free PMC article.
95 results