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3. TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts. Le Ber I; De Septenville A; Millecamps S; Camuzat A; Caroppo P; Couratier P; Blanc F; Lacomblez L; Sellal F; Fleury MC; Meininger V; Cazeneuve C; Clot F; Flabeau O; LeGuern E; Brice A; Neurobiol Aging; 2015 Nov; 36(11):3116.e5-3116.e8. PubMed ID: 26476236 [TBL] [Abstract][Full Text] [Related]
4. Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. Cui R; Tuo M; Li P; Zhou C Neurol Sci; 2018 May; 39(5):811-820. PubMed ID: 29349657 [TBL] [Abstract][Full Text] [Related]
5. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. van der Zee J; Gijselinck I; Van Mossevelde S; Perrone F; Dillen L; Heeman B; Bäumer V; Engelborghs S; De Bleecker J; Baets J; Gelpi E; Rojas-García R; Clarimón J; Lleó A; Diehl-Schmid J; Alexopoulos P; Perneczky R; Synofzik M; Just J; Schöls L; Graff C; Thonberg H; Borroni B; Padovani A; Jordanova A; Sarafov S; Tournev I; de Mendonça A; Miltenberger-Miltényi G; Simões do Couto F; Ramirez A; Jessen F; Heneka MT; Gómez-Tortosa E; Danek A; Cras P; Vandenberghe R; De Jonghe P; De Deyn PP; Sleegers K; Cruts M; Van Broeckhoven C; Goeman J; Nuytten D; Smets K; Robberecht W; Damme PV; Bleecker J; Santens P; Dermaut B; Versijpt J; Michotte A; Ivanoiu A; Deryck O; Bergmans B; Delbeck J; Bruyland M; Willems C; Salmon E; Pastor P; Ortega-Cubero S; Benussi L; Ghidoni R; Binetti G; Hernández I; Boada M; Ruiz A; Sorbi S; Nacmias B; Bagnoli S; Sorbi S; Sanchez-Valle R; Llado A; Santana I; Rosário Almeida M; Frisoni GB; Maetzler W; Matej R; Fraidakis MJ; Kovacs GG; Fabrizi GM; Testi S Hum Mutat; 2017 Mar; 38(3):297-309. PubMed ID: 28008748 [TBL] [Abstract][Full Text] [Related]
6. Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Wilke C; Baets J; De Bleecker JL; Deconinck T; Biskup S; Hayer SN; Züchner S; Schüle R; De Jonghe P; Synofzik M Neurobiol Aging; 2018 Feb; 62():244.e9-244.e13. PubMed ID: 29137817 [TBL] [Abstract][Full Text] [Related]
7. SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature. Li W; Gao H; Dong X; Zheng D J Neurol; 2021 Apr; 268(4):1351-1357. PubMed ID: 33125541 [TBL] [Abstract][Full Text] [Related]
10. Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Freischmidt A; Müller K; Ludolph AC; Weishaupt JH; Andersen PM JAMA Neurol; 2017 Jan; 74(1):110-113. PubMed ID: 27892983 [TBL] [Abstract][Full Text] [Related]
11. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Van Mossevelde S; van der Zee J; Gijselinck I; Engelborghs S; Sieben A; Van Langenhove T; De Bleecker J; Baets J; Vandenbulcke M; Van Laere K; Ceyssens S; Van den Broeck M; Peeters K; Mattheijssens M; Cras P; Vandenberghe R; De Jonghe P; Martin JJ; De Deyn PP; Cruts M; Van Broeckhoven C; Brain; 2016 Feb; 139(Pt 2):452-67. PubMed ID: 26674655 [TBL] [Abstract][Full Text] [Related]
12. [A Pair of Siblings with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis and a Novel Thr462Lysfs Mutation in the TBK1 Gene]. Schönecker S; Brendel M; van der Zee J; van Broeckhoven C; Rominger A; Danek A; Levin J Fortschr Neurol Psychiatr; 2016 Aug; 84(8):494-8. PubMed ID: 27570907 [TBL] [Abstract][Full Text] [Related]
13. ALS due to a novel TBK1 mutation in Brazil. Gondim FAA; Fernandes JMA; Marques Júnior W Amyotroph Lateral Scler Frontotemporal Degener; 2022 Nov; 23(7-8):620-622. PubMed ID: 35118923 [TBL] [Abstract][Full Text] [Related]
14. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the Dols-Icardo O; García-Redondo A; Rojas-García R; Borrego-Hernández D; Illán-Gala I; Muñoz-Blanco JL; Rábano A; Cervera-Carles L; Juárez-Rufián A; Spataro N; De Luna N; Galán L; Cortes-Vicente E; Fortea J; Blesa R; Grau-Rivera O; Lleó A; Esteban-Pérez J; Gelpi E; Clarimón J J Neurol Neurosurg Psychiatry; 2018 Feb; 89(2):162-168. PubMed ID: 28889094 [TBL] [Abstract][Full Text] [Related]
15. TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features. Zhao B; Jiang Q; Lin J; Wei Q; Li C; Hou Y; Cao B; Zhang L; Ou R; Liu K; Yang T; Xiao Y; Shang H Eur J Neurol; 2023 Oct; 30(10):3079-3089. PubMed ID: 37422901 [TBL] [Abstract][Full Text] [Related]
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18. Clinicopathologic correlations in a family with a Hirsch-Reinshagen V; Alfaify OA; Hsiung GR; Pottier C; Baker M; Perkerson RB; Rademakers R; Briemberg H; Foti DJ; Mackenzie IR Amyotroph Lateral Scler Frontotemporal Degener; 2019 Nov; 20(7-8):568-575. PubMed ID: 31244341 [TBL] [Abstract][Full Text] [Related]
19. TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Borghero G; Pugliatti M; Marrosu F; Marrosu MG; Murru MR; Floris G; Cannas A; Occhineri P; Cau TB; Loi D; Ticca A; Traccis S; Manera U; Canosa A; Moglia C; Calvo A; Barberis M; Brunetti M; Gibbs JR; Renton AE; Errichiello E; Zoledziewska M; Mulas A; Qian Y; Din J; Pliner HA; Traynor BJ; Chiò A; Neurobiol Aging; 2016 Jul; 43():180.e1-5. PubMed ID: 27156075 [TBL] [Abstract][Full Text] [Related]
20. Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes. Tábuas-Pereira M; Santana I; Almeida MR; Durães J; Lima M; Duro D; Kun-Rodrigues C; Bras J; Guerreiro R Eur J Neurol; 2022 May; 29(5):1524-1528. PubMed ID: 35020242 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]