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Page 1
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales.
Samra K, Macdougall A, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Sánchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonca A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI); Genetic FTDInitiative (GENFI). Samra K, et al. Among authors: synofzik m. J Neurol Neurosurg Psychiatry. 2023 May;94(5):357-368. doi: 10.1136/jnnp-2022-330152. Epub 2023 Jan 10. J Neurol Neurosurg Psychiatry. 2023. PMID: 36627201 Free PMC article.
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. van der Zee J, et al. Among authors: synofzik m. Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5. Acta Neuropathol. 2014. PMID: 24899140 Free PMC article.
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A. Obayashi M, et al. Among authors: synofzik m. J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):986-95. doi: 10.1136/jnnp-2014-309153. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476002
492 results