M. Baker

发表

A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy

A. Grover, M. Hutton, U. Passant, 2003, Experimental Neurology.

Pick's disease is associated with mutations in the tau gene

J. Hardy, P. Lantos, M. Rossor, 2000, Annals of neurology.

No pathogenic mutations in the persyn gene in Parkinson's disease

A. Destée, M. Farrer, S. Lincoln, 1999, Neuroscience Letters.

A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch

J. Hardy, B. Boeve, S. Younkin, 2002, Neurobiology of Disease.

Identiﬁcation of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms

Jason J. Corneveaux, D. Stephan, S. Melquist, 2007 .

Expression of BRI–amyloid β peptide fusion proteins: a novel method for specific high-level expression of amyloid β peptides

J. Hardy, T. Golde, M. Murphy, 2001 .

Expression of BRI-amyloid beta peptide fusion proteins: a novel method for specific high-level expression of amyloid beta peptides.

J. Hardy, T. Golde, M. Murphy, 2001, Biochimica et biophysica acta.

5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10*

A. Grover, M. Hutton, H. Houlden, 1999, The Journal of Biological Chemistry.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Early‐onset Alzheimer's disease with a presenilin‐1 mutation at the site corresponding to the volga German presenilin‐2 mutation

L. Thal, J. Hardy, Douglas Galasko, 1997, Annals of neurology.

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS‐1 mutations that lead to exceptionally high amyloid‐β concentrations

A. Paetau, J. Hardy, M. Swash, 2000, Annals of neurology.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Brain : a journal of neurology.

Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype

C. Jack, R. Petersen, R. Ivnik, 2008, Neurology.

Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees.

J. Blangero, S. Younkin, L. Younkin, 2000, Science.

C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.

I. Mackenzie, B. Heeman, Jolien Perneel, 2023, Brain : a journal of neurology.

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

M N Rossor, I Litvan, A J Lees, 2001, Neurology.

Cloning and characterization of the presenilin-2 gene promoter.

R. Fuldner, M. Hutton, K. Pennypacker, 1998, Brain research. Molecular brain research.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

D. Geschwind, B. Miller, M. Mesulam, 2010, Neurology.

Clinicopathologic correlation in PGRN mutations

M. Mesulam, E. Bigio, S. Weintraub, 2007, Neurology.

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

J. Hardy, D. Neary, D. Mann, 2002, Brain : a journal of neurology.

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.

M. Farrer, S. Lincoln, J. Hardy, 1999, Neuroreport.

Late-onset frontotemporal dementia associated with progressive supranuclear palsy/argyrophilic grain disease/Alzheimer’s disease pathology

R. Petersen, B. Boeve, D. Knopman, 2005, Neurocase.

Altered functional connectivity in asymptomatic MAPT subjects

David T. Jones, C R Jack, J L Whitwell, 2011, Neurology.

Familial Frontotemporal Dementia Associated with a Novel Presenilin-1 Mutation

R. Petersen, R. Ivnik, J. Hardy, 2002, Dementia and Geriatric Cognitive Disorders.

Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN

C R Jack, J L Whitwell, C. Jack, 2009, Neurology.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)

B. Ghetti, K. Arima, R. Uitti, 2002, Neurology.

No pathogenic mutations in the β-synuclein gene in Parkinson's disease

A. Destée, M. Farrer, S. Lincoln, 1999, Neuroscience Letters.

Progressive Supranuclear Palsy in a family with TDP-43 pathology

A. Kertesz, H. Chertkow, D. Munoz, 2015, Neurocase.

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

H. Harbo, I. Kockum, M. Baker, 2015, European journal of neurology.

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN

J. Gunter, S. Weigand, D. Knopman, 2011, Neurology.