Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration
暂无分享,去创建一个
L. Petrucelli | B. Boeve | D. Dickson | J. Parisi | R. Caselli | R. Uitti | Z. Wszolek | N. Graff-Radford | M. Baker | R. Rademakers | Y. Carlomagno | M. DeTure | K. Josephs | O. Ross | Amanda M. Liesinger | N. Kouri | R. Rademakers
[1] M. Bainbridge,et al. Exome sequencing in familial corticobasal degeneration. , 2013, Parkinsonism & related disorders.
[2] M. Murray,et al. Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD , 2013, Acta Neuropathologica.
[3] J. Hardy,et al. The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features , 2012, Neurobiology of Aging.
[4] Michelle K. Lupton,et al. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. , 2012, Human molecular genetics.
[5] B. Boeve,et al. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. , 2011, Brain : a journal of neurology.
[6] Andrew J. Lees,et al. Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy , 2011, Nature Genetics.
[7] Jennifer L. Whitwell,et al. Corticobasal degeneration: a pathologically distinct 4R tauopathy , 2011, Nature Reviews Neurology.
[8] Brandon E Gavett,et al. TDP-43 Proteinopathy and Motor Neuron Disease in Chronic Traumatic Encephalopathy , 2010, Journal of neuropathology and experimental neurology.
[9] L. Petrucelli,et al. Three Repeat Isoforms of Tau Inhibit Assembly of Four Repeat Tau Filaments , 2010, PloS one.
[10] J. Trojanowski,et al. Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies , 2008, Journal of neuropathology and experimental neurology.
[11] D. Dickson,et al. Clinical and neuropathologic features of progressive supranuclear palsy with severe pallido-nigro-luysial degeneration and axonal dystrophy. , 2008, Brain : a journal of neurology.
[12] A. Lees,et al. Pure akinesia with gait freezing: A third clinical phenotype of progressive supranuclear palsy , 2007, Movement disorders : official journal of the Movement Disorder Society.
[13] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[14] J. Trojanowski,et al. Pathological TDP-43 in parkinsonism–dementia complex and amyotrophic lateral sclerosis of Guam , 2007, Acta Neuropathologica.
[15] J. Growdon,et al. No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer’s disease brain , 2006, Acta Neuropathologica.
[16] G. Schellenberg,et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. , 2005, Human molecular genetics.
[17] B. Hyman,et al. Tau Suppression in a Neurodegenerative Mouse Model Improves Memory Function , 2005, Science.
[18] P. Pástor,et al. Multiple cervical artery dissections , 2005, Neurology.
[19] E. Tolosa,et al. Novel haplotypes in 17q21 are associated with progressive supranuclear palsy , 2004, Annals of neurology.
[20] A. Grover,et al. A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy , 2003, Experimental Neurology.
[21] P. Lantos,et al. Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration , 2002, Journal of neuropathology and experimental neurology.
[22] M N Rossor,et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype , 2001, Neurology.
[23] P. Lantos,et al. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies , 2000, Annals of neurology.
[24] J. Grafman,et al. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation , 2000, Annals of neurology.
[25] J. Molinuevo,et al. Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans , 1999, Neuroscience Letters.
[26] D. Dickson. Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration , 1999, Journal of Neurology.
[27] R. Petersen,et al. Highly active antiretroviral therapy reverses brain metabolite abnormalities in mild HIV dementia , 1999, Neurology.
[28] D. Purich,et al. Disulfide-cross-linked tau and MAP2 homodimers readily promote microtubule assembly. , 1999, Molecular cell biology research communications : MCBRC.
[29] M G Spillantini,et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. , 1999, Journal of neuropathology and experimental neurology.
[30] Virginia M. Y. Lee,et al. From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP‐17) caused by the P301L tau mutation , 1999, Annals of neurology.
[31] I Litvan,et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. , 1999, Human molecular genetics.
[32] A Klug,et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[33] Ronald C. Petersen,et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 , 1998, Nature.
[34] G. Schellenberg,et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia , 1998, Annals of neurology.
[35] L. Thal,et al. Genetic evidence for the involvement of τ in progressive supranuclear palsy , 1997, Annals of neurology.
[36] J. Attems,et al. Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7. , 2011, Clinical neuropathology.
[37] R. Uitti,et al. Hereditary tauopathies and parkinsonism. , 2003, Advances in neurology.