C. Sato

发表

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Ming Zhang, Lorne Zinman, Sandra E. Black, 2018, Journal of visualized experiments : JoVE.

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

J. H. Lee, P. S. St George-Hyslop, B. Tycko, 2001, JAMA.

Screening for PS1 mutations in a referral-based series of AD cases

You-Qiang Song, E. Rogaev, P. S. St George-Hyslop, 2001, Neurology.

The relationship between brain atrophy and cognitive-behavioural symptoms in retired Canadian football players with multiple concussions

R. Wennberg, D. Mikulis, K. Davis, 2018, NeuroImage: Clinical.

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

S. Sorbi, B. Nacmias, E. Rogaeva, 2003, Neuroscience Letters.

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

P. S. St George-Hyslop, A. Lang, E. Rogaeva, 2006, Movement disorders : official journal of the Movement Disorder Society.

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

R. Mayeux, E. Rogaeva, P. George-Hyslop, 2006, Neuroscience Letters.

Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB

E. Rogaeva, M. Ghani, C. Sato, 2013, Neurobiology of Aging.

OBSERVATION T 313 M PINK 1 Mutation in an Extended Highly Consanguineous Saudi Family With Early-Onset Parkinson Disease

D. Westaway, E. Rogaeva, P. George-Hyslop, 2006 .

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.

P. S. St George-Hyslop, D. Westaway, E. Rogaeva, 2006, Archives of neurology.

Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

P. S. St George-Hyslop, A. Lang, E. Rogaeva, 2006, Archives of neurology.

Genetic Variability in CHMP2B and Frontotemporal Dementia

J. Grafman, J. Hardy, P. S. St George-Hyslop, 2006, Neurodegenerative Diseases.

Protracted course progressive supranuclear palsy

A. Lang, R. Perrin, Carlos Cruchaga, 2022, European journal of neurology.

Benign hereditary chorea: Clinical, genetic, and pathological findings

S. Houle, P. S. St George-Hyslop, A. Lang, 2003, Annals of neurology.

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

P. S. St George-Hyslop, A. Lang, B. Traynor, 2015, Brain : a journal of neurology.

Novel GRN Mutations in Patients with Corticobasal Syndrome

E. Rogaeva, M. Tartaglia, M. Ghani, 2016, Scientific Reports.

Mutation analysis of C9orf72 in patients with corticobasal syndrome

Cassandra J. Anor, E. Rogaeva, M. Tartaglia, 2015, Neurobiology of Aging.

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease

A. Lang, A. Morgan, R. Postuma, 2004, Neuroscience Letters.

Mutation of the conserved N‐terminal cysteine (Cys92) of human presenilin 1 causes increased Aβ42 secretion in mammalian cells but impaired Notch/lin‐I2 signalling in C. elegans

You-Qiang Song, E. Rogaeva, P. George-Hyslop, 2000, Neuroreport.

Targeted copy number variant identification across the neurodegenerative disease spectrum

Allison A. Dilliott, M. Freedman, B. Pollock, 2022, Molecular genetics & genomic medicine.

Hypermethylation of the CpG-island near the C 9 orf 72 G 4 C 2-repeat expansion in FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2014 .

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

P. S. St George-Hyslop, S. Sorbi, B. Nacmias, 2014, Human molecular genetics.

Further Analysis of the Nicastrin: Presenilin Complex

You-Qiang Song, P. Fraser, E. Rogaeva, 2002 .

Nicastrin binds to membrane-tethered Notch

You-Qiang Song, P. Fraser, E. Rogaeva, 2001, Nature Cell Biology.

Unaffected mosaic C9orf72 case

L. Petrucelli, E. Rogaeva, C. Sato, 2017, Neurology.

Epigenetic Clock Acceleration Is Linked to Age at Onset of Parkinson's Disease

A. Lang, E. Rogaeva, C. Sato, 2022, Movement disorders : official journal of the Movement Disorder Society.

A novel double mutation in FUS gene causing sporadic ALS

L. Hazrati, E. Rogaeva, I. Mackenzie, 2011, Neurobiology of Aging.

Jump from pre-mutation to pathologic expansion in C9orf72.

D. Dickson, P. Fraser, E. Rogaeva, 2015, American journal of human genetics.

Heterogeneity within a large kindred with frontotemporal dementia

J. Hardy, P. S. St George-Hyslop, A. Kertesz, 2007, Neurology.

C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism

E. Rogaeva, Karen Misquitta, M. Tartaglia, 2017, Movement disorders : official journal of the Movement Disorder Society.

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

P. S. St George-Hyslop, E. Rogaeva, C. Sato, 2006, Movement disorders : official journal of the Movement Disorder Society.

Novel PS1 Mutation in a Bavarian Kindred With Familial Alzheimer Disease

P. S. St George-Hyslop, E. Rogaeva, H. Kretzschmar, 2004, Alzheimer disease and associated disorders.

Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics

D. Pinto, S. Scherer, P. S. St George-Hyslop, 2012, G3: Genes | Genomes | Genetics.

Identical twins with the C9orf72 repeat expansion are discordant for ALS

A. Singleton, E. Rogaeva, Y. Yunusova, 2014, Neurology.

Somatostatin slows Aβ plaque deposition in aged APPNL-F/NL-F mice by blocking Aβ aggregation

C. Sato, H. Wille, G. Schmitt-Ulms, 2022, bioRxiv.

LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation

A. Lang, K. Lohmann, E. Rogaeva, 2010, Neurobiology of Aging.

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

E. Rogaeva, C. Sato, L. Zinman, 2008, Neurobiology of Aging.

PS1 Alzheimer’s disease family with spastic paraplegia

P. S. St George-Hyslop, E. Rogaeva, C. Sato, 2003, Neurology.

Association studies between the plasmin genes and late-onset Alzheimer's disease

Y. Meng, R. Mayeux, L. Farrer, 2007, Neurobiology of Aging.

LRRK2 gene in Parkinson disease

P. S. St George-Hyslop, A. Lang, E. Rogaeva, 2005, Neurology.

Interaction of APOE4 alleles and PET tau imaging in former contact sport athletes

R. Wennberg, S. Houle, D. Mikulis, 2020, NeuroImage: Clinical.

Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach

Suneil K. Kalia, Jurgen Germann, A. Lang, 2021, Journal of Parkinson's disease.

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

Janel O. Johnson, A. Singleton, R. Nussbaum, 2004, Archives of neurology.

Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease

E. Rogaev, P. S. St George-Hyslop, H. Medeiros, 2001, Neurogenetics.

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing

Ruedi Aebersold, You-Qiang Song, Sandro Sorbi, 2000, Nature.

Association between angiotensin-converting enzyme and Alzheimer disease.

E. Rogaev, P. S. St George-Hyslop, L. Farrer, 2000, Archives of neurology.

Rare coding mutations identified by sequencing of Alzheimer disease genome‐wide association studies loci

P. S. St George-Hyslop, R. Mayeux, C. Reitz, 2015, Annals of neurology.

Canadian Association of Neuropathologists

S. Croul, E. Rogaeva, G. Hsiung, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Analysis of the glucocerebrosidase gene in Parkinson's disease

P. S. St George-Hyslop, Y. Meng, A. Lang, 2005, Movement disorders : official journal of the Movement Disorder Society.

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

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

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.

P. S. St George-Hyslop, R. Mayeux, C. Reitz, 2013, JAMA neurology.

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease

A. Lang, E. Rogaeva, M. Ghani, 2016, Neurobiology of Aging.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2015, Acta Neuropathologica.

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

E. Rogaeva, J. Schymick, M. Ghani, 2013, American journal of human genetics.

Contribution of rare variant associations to neurodegenerative disease presentation

M. Freedman, B. Pollock, A. Lang, 2021, NPJ genomic medicine.

DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients

E. Rogaeva, M. Tartaglia, C. Sato, 2017, Acta Neuropathologica.

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28

E. Rogaeva, A. Petronis, M. Ghani, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Drug Repositioning for Alzheimer’s Disease Based on Systematic ‘omics’ Data Mining

Gerold Schmitt-Ulms, Christine Sato, Ekaterina Rogaeva, 2016, PloS one.

Investigation of c9orf72 in 4 neurodegenerative disorders.

P. S. St George-Hyslop, R. Mayeux, L. Hazrati, 2012, Archives of neurology.

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

John F. Robinson, Allison A. Dilliott, M. Freedman, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

J. Hardy, P. S. St George-Hyslop, W. Meschino, 2006, Brain : a journal of neurology.

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy

E. Rogaeva, P. George-Hyslop, C. Cupidi, 2012, Neurobiology of Aging.

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

P. S. St George-Hyslop, D. Westaway, P. Fraser, 2003, Journal of neurochemistry.

Parkinsonism due to A53E α‐synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features

Suneil K. Kalia, P. Fraser, E. Rogaeva, 2018, Movement disorders : official journal of the Movement Disorder Society.

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

G. Bernardi, P. S. St George-Hyslop, E. Rogaeva, 2006, Movement disorders : official journal of the Movement Disorder Society.

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

E. Rogaeva, C. Sato, L. Zinman, 2009, Neurology.

LIV-1 ZIP ectodomain shedding in prion-infected mice resembles cellular response to transition metal starvation.

L. Hazrati, D. Westaway, G. Carlson, 2012, Journal of molecular biology.

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.

Genetic association of CR1 with Alzheimer's disease: A tentative disease mechanism

L. Hazrati, C. Broeckhoven, K. Sleegers, 2012, Neurobiology of Aging.

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Neurobiology of Aging.

MUTATION ANALYSIS OF THE MS4A AND TREM GENE-CLUSTERS IN A CASE-CONTROL ALZHEIMER’S DISEASE DATASET

B. Traynor, E. Rogaeva, P. George-Hyslop, 2016, Alzheimer's & Dementia.

The relationship between brain atrophy and cognitive-behavioral symptoms in retired Canadian football players with multiple concussions

R. Wennberg, D. Collins, D. Mikulis, 2018, bioRxiv.

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

M. Nalls, A. Lang, S. Sorbi, 2015, Neurobiology of Aging.

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

John F. Robinson, Allison A. Dilliott, P. S. St George-Hyslop, 2016, npj Genomic Medicine.

Combined epigenetic/genetic study identified an ALS age of onset modifier

B. Traynor, E. Rogaeva, C. Sato, 2021, Acta neuropathologica communications.

OP-BRAI180237 2895..2907

D. Hernandez, M. Nalls, A. Singleton, 2018 .

Epigenetic clock acceleration is linked to age-at-onset of idiopathic and LRRK2 Parkinson's disease

E. Rogaeva, C. Sato, C. Marras, 2022, medRxiv.

Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.

John F. Robinson, Allison A. Dilliott, M. Freedman, 2019, Brain : a journal of neurology.

Genomic study of a large family with complex neurological phenotype including hearing loss, imbalance and action tremor

A. Lang, E. Rogaeva, C. Sato, 2021, Neurobiology of Aging.

Whole-Genome Study of a Multigenerational Family with Essential Tremor

M. Zhang, A. Fasano, E. Rogaeva, 2021, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins

A. Lang, E. Rogaeva, C. Sato, 2008, Movement disorders : official journal of the Movement Disorder Society.

The Intersection between COVID-19, the Gene Family of ACE2 and Alzheimer’s Disease

E. Rogaeva, M. Ghani, C. Sato, 2020, Neuroscience insights.

Epigenetic clock acceleration is linked to earlier onset and phenoconversion age in REM sleep behavior disorder

R. Postuma, C. Sato, Z. Gan-Or, 2023, medRxiv.

DNA methylation age acceleration is associated with ALS age of onset and survival

E. Rogaeva, C. Sato, Ming Zhang, 2020, Acta Neuropathologica.

Clinical Findings in a Large Family With a Parkin Ex3Δ40 Mutation

M. Farrer, A. Lang, H. Medeiros, 2004 .

Clinical findings in a large family with a parkin ex3delta40 mutation.

M. Farrer, A. Lang, H. Medeiros, 2004, Archives of neurology.

Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses

John F. Robinson, Allison A. Dilliott, M. Freedman, 2021, Neurobiology of Aging.