J. Murrell

发表

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Robert C. Green, Andrew J. Saykin, Liana G. Apostolova, 2012, Nature Genetics.

Late life leisure activities and risk of cognitive decline.

Hui-Xin Wang, K. Hall, H. Hendrie, 2013, The journals of gerontology. Series A, Biological sciences and medical sciences.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Nick C Fox, Cory C. Funk, D. G. Clark, 2017, Nature Genetics.

Tertiary structure of an amyloid immunoglobulin light chain protein: a proposed model for amyloid fibril formation.

N. Schormann, J. Liepnieks, M. Benson, 1995, Proceedings of the National Academy of Sciences of the United States of America.

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Minjie Luo, L. Conlin, R. Rajagopalan, 2020, Genome Medicine.

Selenium level is associated with apoE ε4 in rural elderly Chinese

K. Hall, H. Hendrie, Sujuan Gao, 2009, Public Health Nutrition.

The fourth apolipoprotein E haplotype found in the Yoruba of Ibadan

O. Gureje, K. Hall, H. Hendrie, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Apolipoprotein E and mortality in African-Americans and Yoruba.

K. Hall, H. Hendrie, Sujuan Gao, 2003, Journal of Alzheimer's disease : JAD.

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Aβ42 production

B. Ghetti, Hui Zheng, C. Haass, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

D. G. Clark, M. Fornage, A. Hofman, 2018, Alzheimer's & dementia.

Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians.

A. Saykin, Sungeun Kim, O. Gureje, 2015, Journal of Alzheimer's disease : JAD.

Preparation and crystallization of human transthyretin (prealbumin) variants.

Y. Cao, J. Hamilton, L. Steinrauf, 1991, Biochemical and biophysical research communications.

P301L tauopathy confocal immunofluorescence study of perinuclear aggregation of the mutated protein

B. Ghetti, J. Vonsattel, R. Nixon, 2002, Journal of the Neurological Sciences.

The effect of tau genotype on clinical features in FTDP-17.

R. Petersen, M. Farrer, D. Neary, 2005, Parkinsonism & related disorders.

Report of a critical recombination further narrowing the TSC1 region.

S. Blanton, J. Murrell, H. Northrup, 1996, Journal of medical genetics.

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig.

M. Rutter, A. Buckler, J. Rutter, 1995, Genomics.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

B. Ghetti, K. Newell, B. Bembi, 2016, Acta neuropathologica communications.

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

N. Kley, M. Duyao, J. Rutter, 1993, Cell.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

I. Krantz, L. Medne, Minjie Luo, 2019, The Journal of molecular diagnostics : JMD.

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

Timothy J. Hohman, K. Lunetta, J. Buxbaum, 2016, Alzheimer's & Dementia.

Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation.

N. Schormann, M. Benson, J. Murrell, 1998, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Genetic architecture of age-related cognitive decline in African Americans

D. Bennett, B. Stranger, T. Raj, 2016, Neurology: Genetics.

Aberrantly regulated proteins in frontotemporal dementia.

B. Ghetti, S. Mirra, Mu Wang, 2006, Biochemical and biophysical research communications.

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

N. Fox, C. Cotman, J. Grafman, 2014, Acta Neuropathologica.

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

J. Cummings, B. Ghetti, J. Ringman, 2006, Neurogenetics.

Progress in Hereditary Tauopathies: A Mutation in the Tau Gene (G389R) Causes a Pick Disease‐like Syndrome

B. Ghetti, M. Goedert, M. Spillantini, 2000, Annals of the New York Academy of Sciences.

A comparison of cardiovascular disease risk factor biomarkers in African Americans and Yoruba Nigerians.

O. Gureje, K. Hall, H. Hendrie, 2008, Ethnicity & disease.

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family.

O. Rascol, B. Ghetti, R. Uitti, 2002, Archives of neurology.

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

M. Araúzo-Bravo, H. Schöler, B. Ghetti, 2015, Stem cell reports.

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

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

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

M. Guazzelli, P. Pietrini, B. Ghetti, 1999, Journal of neuropathology and experimental neurology.

Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants.

J. Liepnieks, M. Benson, H. Rosen, 1993, The Journal of clinical endocrinology and metabolism.

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

B. Ghetti, H. Budka, J. Murrell, 2009, Movement disorders : official journal of the Movement Disorder Society.

ALTERED FMRI ACTIVATION PATTERN DURING VISUAL SCENE ENCODING IN AFFECTED AND NON-AFFECTED CARRIERS OF PSEN1 AND APP MUTATIONS

J. Morris, A. Saykin, J. West, 2014, Alzheimer's & Dementia.

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.

B. Ghetti, A. Hake, M. Farlow, 2000, Archives of neurology.

RFLP analysis for APP 717 mutations associated with Alzheimer's disease.

B. Ghetti, M. Farlow, M. Benson, 1993, Journal of medical genetics.

Frontotemporal dementia associated with a Valosin‐Containing Protein mutation: report of three families

S. DeKosky, B. Ghetti, J. Murrell, 2008 .

Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin

J. Ringman, C. Kawas, J. Murrell, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Biochemical characterization of a neuroserpin variant associated with hereditary dementia.

B. Ghetti, M. Farlow, J. Liepnieks, 2001, The American journal of pathology.

Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics

B. Ghetti, A. Hake, M. Farlow, 2000, Journal of Genetic Counseling.

Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD).

A. Klug, B. Ghetti, M. Goedert, 2006, Journal of Alzheimer's disease : JAD.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

R. Pfundt, B. D. de Vries, I. Krantz, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The Human Amyloid-β Precursor Protein770 Mutation V717F Generates Peptides Longer Than Amyloid-β-(40-42) and Flocculent Amyloid Aggregates*

B. Ghetti, M. Farlow, C. Esh, 2003, Journal of Biological Chemistry.

Clinical Features and Disease Haplotypes of Individuals With the N279K tau Gene Mutation

O. Rascol, B. Ghetti, R. Uitti, 2016 .

Mutations in the Tau gene cause frontotemporal dementia

B. Ghetti, M. Spillantini, J. Murrell, 1999, Brain Research Bulletin.

TREM 2 is associated with increased risk for Alzheimer ' s disease in African Americans

S. Lincoln, A. Levey, R. Mayeux, 2022 .

Structure and Function of Recombinant Human Transthyretin

M. Benson, H. Rosen, A. Moses, 1991 .

Metabolism of amyloid proteins.

J. Liepnieks, M. Benson, J. Murrell, 1996, Ciba Foundation symposium.

Encephalopathy with Neuroserpin Inclusion Bodies Presenting as Progressive Myoclonus Epilepsy and Associated with a Novel Mutation in the Proteinase Inhibitor 12 Gene

B. Ghetti, F. Andermann, E. Andermann, 2011, Brain pathology.

Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene

B. Ghetti, M. Farlow, C. Hulette, 2000, Neurobiology of Aging.

Enlarging the Nosological Spectrum of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)

B. Ghetti, H. Goebel, T. Brosch, 2014, Brain pathology.

Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation.

M. Guazzelli, P. Pietrini, A. Gemignani, 2005, Archives italiennes de biologie.

Novel TARDBP mutation associated with frontotemporal dementia and movement disorder but not motor neuron disease

B. Ghetti, H. Budka, J. Murrell, 2009, Alzheimer's & Dementia.

Progressive Supranuclear Palsy in a family with TDP-43 pathology

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

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

D. G. Clark, C. Carlson, K. Lunetta, 2014, JAMA neurology.

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.

A Klug, M G Spillantini, A. Klug, 1998, Proceedings of the National Academy of Sciences of the United States of America.

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.

B. Ghetti, M. Farlow, M. Benson, 1991, Science.

Characterization of Flavonol Synthase and Leucoanthocyanidin Dioxygenase Genes in Arabidopsis (Further Evidence for Differential Regulation of "Early" and "Late" Genes)

J. Murrell, B. W. Shirley, M. Pelletier, 1997, Plant physiology.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

J. Haines, M. MacDonald, R. Martuza, 1993, Cell.

Ectopic White Matter Neurons, a Developmental Abnormality That May Be Caused by the PSEN1 S169L Mutation in a Case of Familial AD with Myoclonus and Seizures

B. Crain, B. Ghetti, A. Heyman, 2001, Journal of neuropathology and experimental neurology.

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

D. Church, A. Buckler, J. Rutter, 1994, Nature Genetics.

An expression-independent catalog of genes from human chromosome 22.

J. Gusella, A. Buckler, J. Murrell, 1995, Genome research.

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number analysis pipeline to detect clinically relevant CNVs

Pushkala Jayaraman, Chao Wu, Minjie Luo, 2019, bioRxiv.

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17.

G. Varani, A. Klug, B. Ghetti, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Increased Tau Phosphorylation and Tau Truncation, and Decreased Synaptophysin Levels in Mutant BRI2/Tau Transgenic Mice

B. Ghetti, J. Murrell, R. Vidal, 2013, PloS one.

Modeling familial British and Danish dementia

B. Ghetti, J. Murrell, R. Vidal, 2010, Brain Structure and Function.

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

TREM2 is associated with increased risk for Alzheimer’s disease in African Americans

S. Lincoln, A. Levey, R. Mayeux, 2015, Molecular Neurodegeneration.

Statin Use, Incident Dementia and Alzheimer Disease in Elderly African Americans.

A. Saykin, A. Hake, K. Hall, 2015, Ethnicity & disease.

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

M. J. Fresnadillo Martínez, H. Hakonarson, G. Schellenberg, 2010, Nature Genetics.

Production and functional analysis of normal and variant recombinant human transthyretin proteins.

J. Liepnieks, M. Benson, H. Rosen, 1992, The Journal of biological chemistry.

Tau pathology in a family with dementia and a P301L mutation in tau.

R A Crowther, J Green, M G Spillantini, 1999, Journal of neuropathology and experimental neurology.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Phillip A. Richmond, A. Hoischen, J. Casanova, 2022, medRxiv.

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.

C. Carlson, K. Lunetta, D. Geschwind, 2015, JAMA neurology.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Birgit Funke, Avni Santani, Rong Mao, 2017, Archives of pathology & laboratory medicine.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

A. Hoischen, I. V. van Rooij, H. Brunner, 2021, Clinical genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family

D. Kareken, B. Ghetti, R. Crowther, 2007, Brain : a journal of neurology.

Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the α-synuclein gene

M. Polymeropoulos, B. Ghetti, K. Shannon, 2005, Acta Neuropathologica.

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.

J. Jankovic, K. Marder, W. Weiner, 2003, Human molecular genetics.

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

William T. Hu, G. Schellenberg, J. Grafman, 2011, Archives of neurology.

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

M. Benson, J. Murrell, S. Zeldenrust, 1992, Journal of medical genetics.

Metabolism of normal and Met30 transthyretin.

M. Benson, J. Murrell, L. Zech, 1996, Advances in food and nutrition research.

Effects of Lithium Monotherapy for Bipolar Disorder on Gene Expression in Peripheral Lymphocytes

J. Nurnberger, A. Anand, J. McClintick, 2016, Molecular Neuropsychiatry.

Spectrum of amyloid β-protein immunoreactivity in hereditary Alzheimer disease with a guanine to thymine missence change at position 1924 of the APP gene

B. Ghetti, M. Farlow, M. Benson, 1992, Brain Research.

PET of Brain Prion Protein Amyloid in Gerstmann–Sträussler–Scheinker Disease

Karen Miller, Sung-Cheng Huang, Grega Repovs, 2010, Brain pathology.

Trace element levels and cognitive function in rural elderly Chinese.

K. Hall, H. Hendrie, Sujuan Gao, 2008, The journals of gerontology. Series A, Biological sciences and medical sciences.

Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET

Eileen F. Tallman, A. Saykin, S. Risacher, 2018, Acta neuropathologica communications.

The Genetics of Very Early Onset Alzheimer Disease

Bernardino Ghetti, B. Ghetti, D. Arciniegas, 2007, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

[(11)C]PiB PET in Gerstmann-Sträussler-Scheinker disease.

Eileen F. Tallman, A. Saykin, S. Risacher, 2016, American journal of nuclear medicine and molecular imaging.

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.

Oscar L Lopez, David A Bennett, Robert C Green, 2013, JAMA.

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

Olivier Rascol, Michel Mohr, O. Rascol, 1999, Acta Neuropathologica.

Homocysteine levels and dementia risk in Yoruba and African Americans

O. Gureje, A. Hake, K. Hall, 2013, International Psychogeriatrics.

Selenium level and cognitive function in rural elderly Chinese.

K. Hall, H. Hendrie, Sujuan Gao, 2007, American journal of epidemiology.

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

Thomas J. Montine, Bernardino Ghetti, Murray A. Raskind, 2014, PLoS genetics.

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

D. G. Clark, C. Carlson, K. Lunetta, 2015, JAMA neurology.

A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

B. Ghetti, Y. Fukuuchi, J. Murrell, 2002, Acta Neuropathologica.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Neuroserpin Mutation S52R Causes Neuroserpin Accumulation in Neurons and Is Associated with Progressive Myoclonus Epilepsy

B. Ghetti, M. Farlow, M. Benson, 2000, Journal of neuropathology and experimental neurology.

Cholesterol, APOE genotype, and Alzheimer disease

O. Gureje, K. Hall, H. Hendrie, 2006, Neurology.

APOE ε4 is not associated with Alzheimer's disease in elderly Nigerians

O. Gureje, K. Hall, H. Hendrie, 2006 .

APOE epsilon4 is not associated with Alzheimer's disease in elderly Nigerians.

O. Gureje, K. Hall, H. Hendrie, 2006, Annals of neurology.

The relationship between cholesterol and cognitive function is homocysteine-dependent

A. Hake, H. Hendrie, Sujuan Gao, 2014, Clinical interventions in aging.

Association of statin use with cognitive decline in elderly African Americans

K. Hall, H. Hendrie, M. Farlow, 2007, Neurology.

Correlates of depressive symptoms in rural elderly Chinese

K. Hall, H. Hendrie, Sujuan Gao, 2009, International journal of geriatric psychiatry.

Corticobasal Syndrome Associated With the A9D Progranulin Mutation

P. Pietrini, J. Grafman, B. Ghetti, 2007, Journal of neuropathology and experimental neurology.

The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein.

J. Liepnieks, M. Benson, G. Malpeli, 1994, The Journal of biological chemistry.

Structural changes in transthyretin produced by the Ile 84 Ser mutation which result in decreased affinity for retinol-binding protein

J. Hamilton, L. Steinrauf, B. Braden, 1996 .

Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments.

R A Crowther, M G Spillantini, B. Ghetti, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Mild cognitive impairment, incidence, progression, and reversion: findings from a community-based cohort of elderly African Americans.

A. Hake, K. Hall, H. Hendrie, 2014, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Prevalence rates for dementia and Alzheimer's disease in African Americans: 1992 versus 2001

O. Gureje, K. Hall, H. Hendrie, 2009, Alzheimer's & Dementia.

Hypertension and Cognitive Decline in Rural Elderly Chinese

Ping Li, Sujuan Gao, Yinlong Jin, 2009, Journal of the American Geriatrics Society.

Hypertension and incident dementia in community‐dwelling elderly Yoruba Nigerians

O. Gureje, K. Hall, H. Hendrie, 2011, Acta neurologica Scandinavica.

Cognitive function, body mass index and mortality in a rural elderly Chinese cohort

D. Clark, A. Hake, H. Hendrie, 2014, Archives of Public Health.

Weight loss and incident dementia in elderly Yoruba Nigerians: a 10-year follow-up study

O. Gureje, A. Hake, K. Hall, 2010, International Psychogeriatrics.

X-ray crystal structure of the Ala-109-->Thr variant of human transthyretin which produces euthyroid hyperthyroxinemia.

L K Steinrauf, J. Hamilton, L. Steinrauf, 1993, The Journal of biological chemistry.

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

M G Spillantini, B. Ghetti, M. Tabaton, 1999, Journal of neuropathology and experimental neurology.

Dysregulation of TDP‐43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

Gary L. Pattee, D. Laurents, B. Ghetti, 2019, Brain pathology.

The novel Tau mutation G335S: clinical, neuropathological and molecular characterization

B. Ghetti, R. Crowther, M. Goedert, 2007, Acta Neuropathologica.

White Matter Tauopathy With Globular Glial Inclusions: A Distinct Sporadic Frontotemporal Lobar Degeneration

B. Ghetti, H. Budka, R. Crowther, 2008, Journal of neuropathology and experimental neurology.

Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation

P. Pietrini, J. Grafman, B. Ghetti, 2007, Neurology.

Use of anticholinergics and the risk of cognitive impairment in an African American population

M. Boustani, A. Hake, K. Hall, 2010, Neurology.

Report ofa critical recombination further narrowing theTSC1region

J. Murrell, K. Au, 2017 .

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

C. Jack, B. Boeve, Glenn E. Smith, 2005, Brain : a journal of neurology.

Association of apolipoprotein E genotype and Alzheimer disease in African Americans.

O. Gureje, K. Hall, H. Hendrie, 2006, Archives of neurology.

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP‐17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer’s disease

B. Crain, R. Jennings, D. Dickson, 2006, Neuropathology and applied neurobiology.

Screening for C9ORF72 repeat expansion in FTLD

Pietro Pietrini, Dimitrios Kapogiannis, Jordan Grafman, 2012, Neurobiology of Aging.

Early‐onset Dementia with Lewy Bodies

B. Ghetti, R. Crowther, M. Goedert, 2004, Brain pathology.

Phenotypic variability in three families with valosin‐containing protein mutation

S. DeKosky, B. Ghetti, M. Farlow, 2013, European journal of neurology.

Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.

Dibson D. Gondim, B. Ghetti, A. Oblak, 2019, Journal of Neuropathology and Experimental Neurology.

Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17.

Daniel L. Koller, B. Ghetti, T. Foroud, 1997, American journal of human genetics.

APOE ε4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba

Andrew J. Saykin, Kathleen A. Lane, Christopher M. Callahan, 2014, International Psychogeriatrics.

Selenium level and depressive symptoms in a rural elderly Chinese cohort

K. Hall, H. Hendrie, Sujuan Gao, 2012, BMC Psychiatry.

Neuropsychological function in nondemented carriers of presenilin-1 mutations

B. Ghetti, J. Ringman, C. Kawas, 2005, Neurology.

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Minjie Luo, L. Conlin, R. Rajagopalan, 2020, Genome Medicine.

In vivo and Postmortem Clinicoanatomical Correlations in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17

Pietro Pietrini, Jordan Grafman, Brian Sweeney, 2008, Neurodegenerative Diseases.

PiB PET in Gerstmann-Sträussler-Scheinker disease

Eileen F. Tallman, A. Saykin, S. Risacher, 2016 .

Threonine for alanine substitution at position 109 of transthyretin differentially alters human transthyretin's affinity for iodothyronines.

V. Cody, J. Liepnieks, M. Benson, 1994, Endocrinology.

Clinical characteristics in a kindred with early‐onset Alzheimer's disease and their linkage to a G→T change at position 2149 of the amyloid precursor protein gene

B. Ghetti, M. Farlow, M. Benson, 1994, Neurology.

Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers.

A. Saykin, S. Risacher, D. Kareken, 2014, American Journal of Neurodegenerative Disease.

Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease

B. Ghetti, I. Litvan, A. Espay, 2010, Journal of Neurology Neurosurgery & Psychiatry.

Dementia incidence declined in African-Americans but not in Yoruba

O. Gureje, A. Hake, K. Hall, 2016, Alzheimer's & Dementia.

Screening for C 9 ORF 72 repeat expansion in FTLD

P. Pietrini, J. Grafman, J. Hardy, 2013 .

Familial Alzheimer's Disease with Spastic Paraparesis Associated with a Mutation at Codon 261 of the Presenilin 1 Gene

B. Ghetti, M. Farlow, C. Hulette, 2002 .

The human amyloid-beta precursor protein770 mutation V717F generates peptides longer than amyloid-beta-(40-42) and flocculent amyloid aggregates.

B. Ghetti, M. Farlow, C. Esh, 2004, The Journal of biological chemistry.

Mutation ∆K281 in MAPT causes Pick’s disease

S. Risacher, B. Ghetti, M. Goedert, 2023, Acta Neuropathologica.

International Studies in Dementia With Particular Emphasis on Populations of African Origin

K. Hall, H. Hendrie, Sujuan Gao, 2006, Alzheimer disease and associated disorders.

Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

B. Ghetti, J. Maldjian, M. Stacy, 2014, Acta Neuropathologica.

Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital

I. Krantz, L. Medne, C. Skraban, 2023, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

H. Hakonarson, V. Shashi, B. Krock, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The effects of DAT1 genotype on fMRI activation in an emotional go/no-go task

A. Anand, J. Murrell, H. Karne, 2017, Brain Imaging and Behavior.

Normative Data for Neuropsychological Tests in a Rural Elderly Chinese Cohort

K. Hall, H. Hendrie, Sujuan Gao, 2012, The Clinical neuropsychologist.

Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia

B. Ghetti, J. Ringman, C. Kawas, 2006, International Psychogeriatrics.

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

D. G. Clark, Jason J. Corneveaux, C. Carlson, 2014, JAMA neurology.

11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.

B. Ghetti, W. Klunk, C. Mathis, 2021, Brain : a journal of neurology.

Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians.

A. Saykin, Sungeun Kim, O. Gureje, 2015, Journal of Alzheimer's disease : JAD.

Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African‐Americans

S. DeKosky, H. Hendrie, M. Kamboh, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.

K. Lunetta, J. Buxbaum, M. Pericak-Vance, 2013, JAMA.

Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin

J. Ringman, C. Kawas, J. Murrell, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Genetic architecture of age-related cognitive decline in African Americans

D. Bennett, B. Stranger, T. Raj, 2016, Neurology: Genetics.

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

D. G. Clark, Jason J. Corneveaux, C. Carlson, 2014, JAMA neurology.

Statin Use, Incident Dementia and Alzheimer Disease in Elderly African Americans.

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