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Page 1
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.
Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study.
Jiskoot LC, Bocchetta M, Nicholas JM, Cash DM, Thomas D, Modat M, Ourselin S, Rombouts SARB, Dopper EGP, Meeter LH, Panman JL, van Minkelen R, van der Ende EL, Donker Kaat L, Pijnenburg YAL, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Rowe J, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, de Mendonça A, Sorbi S; Genetic Frontotemporal dementia Initiative (GENFI); Papma JM, van Swieten JC, Rohrer JD. Jiskoot LC, et al. Among authors: van minkelen r, van swieten jc, van der ende el. Ann Clin Transl Neurol. 2018 Jul 11;5(9):1025-1036. doi: 10.1002/acn3.601. eCollection 2018 Sep. Ann Clin Transl Neurol. 2018. PMID: 30250860 Free PMC article.
Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study.
Mutsaerts HJMM, Mirza SS, Petr J, Thomas DL, Cash DM, Bocchetta M, de Vita E, Metcalfe AWS, Shirzadi Z, Robertson AD, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Keren R, Rogaeva E, van Swieten J, Laforce R, Tagliavini F, Borroni B, Galimberti D, Rowe JB, Graff C, Frisoni GB, Finger E, Sorbi S, de Mendonça A, Rohrer JD, MacIntosh BJ, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Mutsaerts HJMM, et al. Brain. 2019 Apr 1;142(4):1108-1120. doi: 10.1093/brain/awz039. Brain. 2019. PMID: 30847466 Free PMC article.
CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia.
Woollacott IOC, Swift IJ, Sogorb-Esteve A, Heller C, Knowles K, Bouzigues A, Russell LL, Peakman G, Greaves CV, Convery R, Heslegrave A, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Tartaglia MC, Finger E, van Swieten JC, Seelaar H, Jiskoot L, Sorbi S, Butler CR, Graff C, Gerhard A, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Ber IL, Levin J, Otto M, Pasquier F, Santana I, Zetterberg H, Rohrer JD; Genetic FTD Initiative, GENFI. Woollacott IOC, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1764-1777. doi: 10.1002/acn3.51672. Epub 2022 Oct 17. Ann Clin Transl Neurol. 2022. PMID: 36245297 Free PMC article.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: van minkelen r. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 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.
Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales.
Fumagalli GG, Basilico P, Arighi A, Bocchetta M, Dick KM, Cash DM, Harding S, Mercurio M, Fenoglio C, Pietroboni AM, Ghezzi L, van Swieten J, Borroni B, de Mendonça A, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, Sorbi S, Scarpini E, Rohrer JD, Galimberti D; Genetic FTD Initiative (GENFI). Fumagalli GG, et al. Alzheimers Res Ther. 2018 May 24;10(1):46. doi: 10.1186/s13195-018-0376-9. Alzheimers Res Ther. 2018. PMID: 29793546 Free PMC article.
110 results