507 related articles for article (PubMed ID: 20352044)
1. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE; Ferraiuolo L; Goodall EF; Heath PR; Higginbottom A; Mortiboys H; Hollinger HC; Hartley JA; Brockington A; Burness CE; Morrison KE; Wharton SB; Grierson AJ; Ince PG; Kirby J; Shaw PJ
PLoS One; 2010 Mar; 5(3):e9872. PubMed ID: 20352044
[TBL] [Abstract][Full Text] [Related]
2. Longitudinal transcriptomic analysis of altered pathways in a CHMP2B
Waegaert R; Dirrig-Grosch S; Parisot F; Keime C; Henriques A; Loeffler JP; René F
Neurobiol Dis; 2020 Mar; 136():104710. PubMed ID: 31837425
[TBL] [Abstract][Full Text] [Related]
3. A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.
Vernay A; Therreau L; Blot B; Risson V; Dirrig-Grosch S; Waegaert R; Lequeu T; Sellal F; Schaeffer L; Sadoul R; Loeffler JP; René F
Hum Mol Genet; 2016 Aug; 25(15):3341-3360. PubMed ID: 27329763
[TBL] [Abstract][Full Text] [Related]
4. Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2B
Waegaert R; Dirrig-Grosch S; Liu H; Boutry M; Luan P; Loeffler JP; René F
Biomolecules; 2022 Mar; 12(4):. PubMed ID: 35454086
[TBL] [Abstract][Full Text] [Related]
5. Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.
Ugbode C; West RJH
Neurobiol Dis; 2021 Jan; 147():105144. PubMed ID: 33144171
[TBL] [Abstract][Full Text] [Related]
6. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.
Blair IP; Williams KL; Warraich ST; Durnall JC; Thoeng AD; Manavis J; Blumbergs PC; Vucic S; Kiernan MC; Nicholson GA
J Neurol Neurosurg Psychiatry; 2010 Jun; 81(6):639-45. PubMed ID: 19965854
[TBL] [Abstract][Full Text] [Related]
7. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N; Ince PG; Smith MO; Highley R; Skibinski G; Andersen PM; Morrison KE; Pall HS; Hardiman O; Collinge J; Shaw PJ; Fisher EM; ;
Neurology; 2006 Sep; 67(6):1074-7. PubMed ID: 16807408
[TBL] [Abstract][Full Text] [Related]
8. Frontotemporal dementia caused by CHMP2B mutations.
Isaacs AM; Johannsen P; Holm I; Nielsen JE;
Curr Alzheimer Res; 2011 May; 8(3):246-51. PubMed ID: 21222599
[TBL] [Abstract][Full Text] [Related]
9. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Cooper-Knock J; Hewitt C; Highley JR; Brockington A; Milano A; Man S; Martindale J; Hartley J; Walsh T; Gelsthorpe C; Baxter L; Forster G; Fox M; Bury J; Mok K; McDermott CJ; Traynor BJ; Kirby J; Wharton SB; Ince PG; Hardy J; Shaw PJ
Brain; 2012 Mar; 135(Pt 3):751-64. PubMed ID: 22366792
[TBL] [Abstract][Full Text] [Related]
10. Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hogan AL; Don EK; Rayner SL; Lee A; Laird AS; Watchon M; Winnick C; Tarr IS; Morsch M; Fifita JA; Gwee SSL; Formella I; Hortle E; Yuan KC; Molloy MP; Williams KL; Nicholson GA; Chung RS; Blair IP; Cole NJ
Hum Mol Genet; 2017 Jul; 26(14):2616-2626. PubMed ID: 28444311
[TBL] [Abstract][Full Text] [Related]
11. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Clayton EL; Mizielinska S; Edgar JR; Nielsen TT; Marshall S; Norona FE; Robbins M; Damirji H; Holm IE; Johannsen P; Nielsen JE; Asante EA; Collinge J; ; Isaacs AM
Acta Neuropathol; 2015 Oct; 130(4):511-23. PubMed ID: 26358247
[TBL] [Abstract][Full Text] [Related]
12. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J; Urwin H; Engelborghs S; Bruyland M; Vandenberghe R; Dermaut B; De Pooter T; Peeters K; Santens P; De Deyn PP; Fisher EM; Collinge J; Isaacs AM; Van Broeckhoven C
Hum Mol Genet; 2008 Jan; 17(2):313-22. PubMed ID: 17956895
[TBL] [Abstract][Full Text] [Related]
13. Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.
Talbot K; Ansorge O
Hum Mol Genet; 2006 Oct; 15 Spec No 2():R182-7. PubMed ID: 16987882
[TBL] [Abstract][Full Text] [Related]
14. FTD/ALS Type 7-Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator.
Shirai R; Cho M; Isogai M; Fukatsu S; Okabe M; Okawa M; Miyamoto Y; Torii T; Yamauchi J
Neurol Int; 2023 Aug; 15(3):980-993. PubMed ID: 37606396
[TBL] [Abstract][Full Text] [Related]
15. Neuroprotective activity of ursodeoxycholic acid in CHMP2B
West RJH; Ugbode C; Fort-Aznar L; Sweeney ST
Neurobiol Dis; 2020 Oct; 144():105047. PubMed ID: 32801000
[TBL] [Abstract][Full Text] [Related]
16. Genetic overlap between apparently sporadic motor neuron diseases.
van Blitterswijk M; Vlam L; van Es MA; van der Pol WL; Hennekam EA; Dooijes D; Schelhaas HJ; van der Kooi AJ; de Visser M; Veldink JH; van den Berg LH
PLoS One; 2012; 7(11):e48983. PubMed ID: 23155438
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
Rizzu P; van Mil SE; Anar B; Rosso SM; Donker Kaat L; Heutink P; van Swieten JC
Am J Med Genet B Neuropsychiatr Genet; 2006 Dec; 141B(8):944-6. PubMed ID: 16941655
[TBL] [Abstract][Full Text] [Related]
19. A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.
Li C; Wen Y; Zhao M; Wang Y; Li P; Wang L; Wang S
Mol Genet Genomic Med; 2023 Aug; 11(8):e2222. PubMed ID: 37272767
[TBL] [Abstract][Full Text] [Related]
20. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.
Byrne S; Elamin M; Bede P; Shatunov A; Walsh C; Corr B; Heverin M; Jordan N; Kenna K; Lynch C; McLaughlin RL; Iyer PM; O'Brien C; Phukan J; Wynne B; Bokde AL; Bradley DG; Pender N; Al-Chalabi A; Hardiman O
Lancet Neurol; 2012 Mar; 11(3):232-40. PubMed ID: 22305801
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]