Taylor JP, Brown RH Jr, Cleveland DW. Decoding ALS: from genes to mechanism. Nature. 2016;539(7628):197–206.
Article PubMed PubMed Central Google Scholar
Harvey RJ, Skelton-Robinson M, Rossor MN. The prevalence and causes of dementia in people under the age of 65 years. J Neurol Neurosurg Psychiatry. 2003;74(9):1206–9.
Article CAS PubMed PubMed Central Google Scholar
Sieben A, Van Langenhove T, Engelborghs S, Martin JJ, Boon P, Cras P, et al. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012;124(3):353–72.
Article CAS PubMed PubMed Central Google Scholar
Mignarri A, Battistini S, Tomai Pitinca ML, Monti L, Burroni L, Ginanneschi F, et al. Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia. J Neurol Sci. 2014;341(1–2):176–8.
Article CAS PubMed Google Scholar
Burrell JR, Kiernan MC, Vucic S, Hodges JR. Motor neuron dysfunction in frontotemporal dementia. Brain. 2011;134(Pt 9):2582–94.
Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology. 2005;65(4):586–90.
Article CAS PubMed Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72(2):245–56.
Article CAS PubMed PubMed Central Google Scholar
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72(2):257–68.
Article CAS PubMed PubMed Central Google Scholar
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature. 2011;477(7363):211–5.
Article CAS PubMed PubMed Central Google Scholar
Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, et al. Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2013;84(2):183–7.
Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, et al. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget’s disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol neuroscience: MN. 2011;45(3):522–31.
Borroni B, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, et al. TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. Rejuven Res. 2010;13(5):509–17.
Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75(9):807–14.
Article CAS PubMed PubMed Central Google Scholar
Ye S, Ji Y, Li C, He J, Liu X, Fan D. The Edinburgh Cognitive and Behavioural ALS Screen in a Chinese Amyotrophic Lateral Sclerosis Population. PLoS ONE. 2016;11(5):e0155496.
Article PubMed PubMed Central Google Scholar
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51(6):1546–54.
Article CAS PubMed Google Scholar
Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat. 2012;33(9):1345–51.
Article CAS PubMed Google Scholar
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, et al. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci. 2015;18(5):631–6.
Article CAS PubMed Google Scholar
Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun. 2016;7:11253.
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet medicine: official J Am Coll Med Genet. 2015;17(5):405–24.
Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, et al. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. Neurobiol Aging. 2017;58:239. e11- e20.
Hudson AJ. Amyotrophic lateral sclerosis/parkinsonism/dementia: clinico-pathological correlations relevant to Guamanian ALS/PD. The Canadian journal of neurological sciences Le journal canadien des sciences neurologiques. 1991;18(3 Suppl):387–9.
Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 1996;61(5):450–5.
Article CAS PubMed PubMed Central Google Scholar
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat. 2013;34(2):363–73.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11(4):323–30.
Article CAS PubMed PubMed Central Google Scholar
Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, et al. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiol Aging. 2014;35(5):1213 e13-7.
Garcia-Redondo A, Dols-Icardo O, Rojas-Garcia R, Esteban-Perez J, Cordero-Vazquez P, Munoz-Blanco JL, et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 2013;34(1):79–82.
Article CAS PubMed Google Scholar
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33(10):2527. e11-6.
Liu Q, Liu F, Cui B, Lu CX, Guo XN, Wang RR, et al. Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2016;87(11):1272–4.
Liao YC, Fernandopulle MS, Wang G, Choi H, Hao L, Drerup CM, et al. RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether. Cell. 2019;179(1):147–64. e20.
Article CAS PubMed PubMed Central Google Scholar
Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, et al. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science translational medicine. 2017;9(388).
D’Angiolella V, Donato V, Vijayakumar S, Saraf A, Florens L, Washburn MP, et al. SCF(Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation. Nature. 2010;466(7302):138–42.
留言 (0)