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Page 1
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.
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.
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.
Shafiei G, Bazinet V, Dadar M, Manera AL, Collins DL, Dagher A, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Butler C, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Jiskoot LC, Seelaar H, van Swieten JC, Rohrer JD, Misic B, Ducharme S; Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI); GENetic Frontotemporal dementia Initiative (GENFI). Shafiei G, et al. Brain. 2023 Jan 5;146(1):321-336. doi: 10.1093/brain/awac069. Brain. 2023. PMID: 35188955 Free PMC article.
Corrigendum to "Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study" [Neurobiology of Aging Volume 108, December 2021, Pages 155-167].
Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun V, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe J, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Premi E, et al. Neurobiol Aging. 2022 Nov;119:140-144. doi: 10.1016/j.neurobiolaging.2022.08.005. Epub 2022 Sep 2. Neurobiol Aging. 2022. PMID: 36064515 No abstract available.
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
Whiteside DJ, Malpetti M, Jones PS, Ghosh BCP, Coyle-Gilchrist I, van Swieten JC, Seelaar H, Jiskoot L, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, Bouzigues A, Russell LL, Rohrer JD, Rowe JB, Rittman T; GENFI consortium. Whiteside DJ, et al. Alzheimers Dement. 2023 May;19(5):1947-1962. doi: 10.1002/alz.12824. Epub 2022 Nov 15. Alzheimers Dement. 2023. PMID: 36377606 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
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort.
Bocchetta M, Todd EG, Bouzigues A, Cash DM, Nicholas JM, Convery RS, Russell LL, Thomas DL, Malone IB, Iglesias JE, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, 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. Brain Commun. 2023 Mar 10;5(2):fcad061. doi: 10.1093/braincomms/fcad061. eCollection 2023. Brain Commun. 2023. PMID: 36970046 Free PMC article.
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
Jiskoot LC, Russell LL, Peakman G, Convery RS, Greaves CV, Bocchetta M, Poos JM, Seelaar H, Giannini LAA, van Swieten JC, van Minkelen R, Pijnenburg YAL, Rowe JB, Borroni B, Galimberti D, Masellis M, Tartaglia C, Finger E, Butler CR, Graff C, Laforce R Jr, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, le Ber I, Levin J, Otto M, Pasquier F, Santana I, Cash DM, Thomas D, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI). Jiskoot LC, et al. Among authors: van minkelen r, van swieten jc. J Neurol Sci. 2023 Mar 15;446:120590. doi: 10.1016/j.jns.2023.120590. Epub 2023 Feb 16. J Neurol Sci. 2023. PMID: 36812822 Free 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.
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.
110 results