Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

[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.