J. Adamson

发表

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Ronald C. Petersen, Frank Owen, Stanley Fahn, 1998, Nature.

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Bruce L. Miller, William W. Seeley, Adam L. Boxer, 2011, Neuron.

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

S. Melquist, M. Mesulam, B. Boeve, 2006, Human molecular genetics.

Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

I Litvan, J. Hardy, D. Dickson, 1999, Human molecular genetics.

Ataxin-2 repeat-length variation and neurodegeneration.

B. Miller, R. Petersen, B. Boeve, 2011, Human molecular genetics.

Early Onset Familial Alzheimer Disease With Spastic Paraparesis, Dysarthria, and Seizures and N135S Mutation in PSEN1

D. Dickson, M. Hutton, N. Graff-Radford, 2008, Alzheimer disease and associated disorders.

New Genes, New Dilemmas: FTLD Genetics and Its Implications for Families

B. Miller, A. Karydas, M. Hutton, 2008, American journal of Alzheimer's disease and other dementias.

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

D. Geschwind, G. Schellenberg, B. Miller, 2007, The Lancet Neurology.

Progress in PSP and CBD

D. Dickson, M. Hutton, M. Baker, 2002 .

Frontal Lobe Dysfunction in Progressive Supranuclear Palsy

S. Augood, M. Beal, D. Standaert, 2000, Journal of neurochemistry.

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

G. Schellenberg, S. Melquist, D. Dickson, 2005, Human molecular genetics.

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

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

Association between apolipoprotein E genotype and Alzheimer disease in African American subjects.

Robert C Green, David Bachman, L Adrienne Cupples, 2002, Archives 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.

Progranulin Mutations in Primary Progressive Aphasia

M. Mesulam, D. Dickson, E. Bigio, 2016 .

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations

R. Petersen, B. Boeve, D. Knopman, 2007, Journal of neuropathology and experimental neurology.

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions

M. Farrer, J. Kachergus, D. Dickson, 2007, Acta Neuropathologica.

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

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

Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy

J. Hardy, D. Dickson, M. Hutton, 2001, Annals of neurology.

Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes.

M. Hutton, N. Graff-Radford, M. Baker, 2002, Archives of neurology.

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 .

Early Onset Alzheimer ’ s Disease with Spastic Paraparesis , Dysarthria and Seizures and N 135 S Mutation in PSEN 1

D. Dickson, M. Hutton, N. Graff-Radford, 2009 .

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

Richard J Caselli, John V Pearson, Irene Litvan, 2007, American journal of human genetics.

Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations.

Clifford R Jack, Ronald C Petersen, David S Knopman, 2007, Archives of neurology.

Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

R. Petersen, B. Boeve, D. Knopman, 2011, Nature Genetics.

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

S. Melquist, D. Neary, B. Boeve, 2006, Nature.

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

David T. Jones, C. Jack, R. Petersen, 2012, Brain : a journal of neurology.

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.

Unbiased screen reveals ubiquilin-1 and -2 highly associated with huntingtin inclusions

D. Borchelt, T. Golde, P. Cruz, 2013, Brain Research.

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17.

S. Melquist, H. Feldman, A. Sadovnick, 2006, Brain : a journal of neurology.

Clinicopathologic correlation in PGRN mutations

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

Heritability of plasma amyloid β in typical late‐onset Alzheimer’s disease pedigrees

D. Schaid, S. Younkin, L. Younkin, 2001 .

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.

Richard J. Caselli, Gene E. Alexander, Kewei Chen, 2008, NeuroImage.

Prominent phenotypic variability associated with mutations in Progranulin

C. Jack, R. Petersen, R. Ivnik, 2009, Neurobiology of Aging.

Suppression of MMP-9 by doxycycline in brain arteriovenous malformations

A. Singleton, D. Holtzman, J. Grafman, 2004, BMC neurology.

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

R. Petersen, B. Boeve, Glenn E. Smith, 2010, Archives of neurology.

Cortical Synapse Loss in Progressive Supranuclear Palsy

E. Bigio, M. Hutton, M. Baker, 2001, Journal of neuropathology and experimental neurology.

Frequency of tau mutations in three series of non‐Alzheimer's degenerative dementia

R. Petersen, D. Neary, B. Boeve, 1999, Annals of neurology.

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

Nancy Johnson, Sandra Weintraub, Marsel Mesulam, 2007, Archives of neurology.

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

Charles D. Smith, S. Mehta, M. Hutton, 2007, Genetics in Medicine.

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

D. Neary, B. Boeve, D. Knopman, 2006, Neuroscience Letters.

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

J. Morris, J. Hardy, C. Duijn, 1999, Neuroscience Letters.

Apolipoprotein epsilon4 allele frequency in young Africans of Ugandan descent versus African Americans.

M. Hutton, N. Graff-Radford, J. Adamson, 2003, Journal of the National Medical Association.

Apolipoprotein ∈4 allele frequency in young Africans of Ugandan descent versus African Americans

M. Hutton, N. Graff-Radford, J. Adamson, 2003 .

Analysis of IFT 74 as a candidate gene for chromosome 9 p-linked ALS-FTD

D. Holtzman, J. Grafman, N. Cairns, 2015 .

Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology

S. Subramony, B. Giasson, J. Adamson, 2019, Acta Neuropathologica Communications.

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

D. Geschwind, R. Petersen, B. Boeve, 2011, Neuron.