Search Results - "Baker, Matthew C."
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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
Published in Nature neuroscience (01-08-2015)“…Evidence suggests that aberrant RNA processing contributes to amyotrophic lateral sclerosis (ALS). Using RNA sequencing, Prudencio et al . assessed the extent…”
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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
Published in Acta neuropathologica (01-12-2013)“…Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a significant portion of patients suffering from amyotrophic lateral sclerosis…”
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Neutralizing anti–IL-1 receptor antagonist autoantibodies induce inflammatory and fibrotic mediators in IgG4-related disease
Published in Journal of allergy and clinical immunology (01-01-2022)“…IgG4-related disease (IgG4-RD) is a fibroinflammatory condition involving loss of B-cell tolerance and production of autoantibodies. However, the relevant…”
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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
Published in Lancet neurology (01-10-2013)“…Summary Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 ( C9ORF72 ) are the most common known genetic cause of frontotemporal…”
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Jump from Pre-mutation to Pathologic Expansion in C9orf72
Published in American journal of human genetics (04-06-2015)“…An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration…”
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Lewy Body Disease is a Contributor to Logopenic Progressive Aphasia Phenotype
Published in Annals of neurology (01-03-2021)“…Objective The objective of this study was to describe clinical features, [18F]‐fluorodeoxyglucose (FDG)‐positron emission tomography (PET) metabolism and…”
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CD52 Is Elevated on B cells of SLE Patients and Regulates B Cell Function
Published in Frontiers in immunology (04-02-2021)“…Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by B cell dysregulation and breaks in tolerance that lead to the production of…”
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Increased double-negative αβ+ T-cells reveal adult-onset autoimmune lymphoproliferative syndrome in a patient with IgG4-related disease
Published in Haematologica (Roma) (01-01-2022)Get full text
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Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers
Published in Molecular neurodegeneration (30-01-2020)“…A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic…”
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Biologics Initiation in Rheumatoid Arthritis by Race and Ethnicity: Results From a Randomized Survey Study
Published in ACR open rheumatology (01-07-2023)“…Objective To investigate whether the race and ethnicity of a patient with rheumatoid arthritis (RA) influences rheumatologists’ likelihood of choosing to…”
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Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia
Published in Brain and language (01-03-2015)“…•Logopenic aphasia is usually, although not always, associated with Alzheimer disease.•Neuroimaging features differed between lvPPA patients with and without…”
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Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies
Published in Acta neuropathologica communications (06-07-2023)“…Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by degeneration of the frontal and temporal lobes, leading to progressive…”
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Progranulin-associated PiB-negative logopenic primary progressive aphasia
Published in Journal of neurology (01-03-2014)“…The logopenic variant of primary progressive aphasia (lvPPA) strongly associates with Alzheimer’s disease, but can also associate with frontotemporal lobar…”
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Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers
Published in Acta neuropathologica communications (08-10-2019)“…The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains…”
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Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration
Published in Acta neuropathologica communications (01-06-2023)“…Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are distinct clinicopathological subtypes of frontotemporal lobar degeneration. They…”
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Repurposing drugs for the treatment of osteoarthritis
Published in Osteoarthritis and cartilage (01-08-2024)“…Currently, no disease-modifying therapies for osteoarthritis (OA) exist, and attempts to identify novel cellular targets have been challenging. Risk factors…”
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Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations
Published in Annals of clinical and translational neurology (01-09-2019)“…Objective To identify clinicopathological differences between frontotemporal lobar degeneration (FTLD) due to mutations in progranulin (FTLD‐GRN) and…”
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Prevalence and significance of pulmonary disease on lung ultrasonography in outpatients with SARS-CoV-2 infection
Published in BMJ open respiratory research (12-08-2021)“…BackgroundThe majority of patients with SARS-CoV-2 infection are diagnosed and managed as outpatients; however, little is known about the burden of pulmonary…”
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