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Author Details

NiCole A Finch
Mayo Clinic
2008
46
30
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36546684APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology.Ann Neurol2023
34918030Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.Brain2022
33889947Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.Brain2021
32504082Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.Brain2020
32000838Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.Mol Neurodegener2020
31594549Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.Acta Neuropathol Commun2019
29367892The Magnetic Levator Prosthesis for Temporary Management of Severe Blepharoptosis: Initial Safety and Efficacy.Transl Vis Sci Technol2018
29855382Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity.Acta Neuropathol Commun2018
29986742Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.Mol Neurodegener2018
29724592Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.Lancet Neurol2018
28660252Abnormal expression of homeobox genes and transthyretin in <i>C9ORF72</i> expansion carriers.Neurol Genet2017
29264393Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.Neurol Genet2017
28508101In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Acta Neuropathol2017
27112350Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain.Mol Neurodegener2016
27612602Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals.Exp Gerontol2016
27658901TYROBP genetic variants in early-onset Alzheimer's disease.Neurobiol Aging2016
27356620Prosaposin is a regulator of progranulin levels and oligomerization.Nat Commun2016
27216421Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain.Mol Neurodegener2016
25943890Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Acta Neuropathol2015
26279204A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.Am J Hum Genet2015
26437865Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.Acta Neuropathol2015
26077951Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.Nat Commun2015
24163244Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.Hum Mol Genet2014
24771538Progranulin protein levels are differently regulated in plasma and CSF.Neurology2014
24796542Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.Hum Mutat2014
24385136TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.Acta Neuropathol2014
23408870CSF1R mutations link POLD and HDLS as a single disease entity.Neurology2013
24011653Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.Lancet Neurol2013
23742080TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.J Neurochem2013
21074900Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis.Neurobiol Aging2012
23383383C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.Am J Neurodegener Dis2012
22781549Progranulin regulates neuronal outgrowth independent of sortilin.Mol Neurodegener2012
22491866Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin.Neurology2012
21178100TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.Neurology2011
22032330Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.BMC Genomics2011
22197934Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.Nat Genet2011
21944778Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.Neuron2011
21626010Human genetics as a tool to identify progranulin regulators.J Mol Neurosci2011
21346515Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically.Alzheimer Dis Assoc Disord2011
20232451De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Hum Mutat2010
21087763Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.Am J Hum Genet2010
20155396Characterization of monocarboxylate transporter 1 (MCT1) binding affinity for Basigin gene products and L1cam.Cell Mol Neurobiol2010
19158106Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.Brain2009
19760495Hydrophobic interactions stabilize the basigin-MCT1 complex.Protein J2009
18802454Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.PLoS Genet2008
18723524Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.Hum Mol Genet2008
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