|
| 35949106 | Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. | Brain | 2023 |
| 37919439 | Author Correction: Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease. | Nat Med | 2023 |
| 37598468 | NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease. | J Neurol Sci | 2023 |
| 37814059 | Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease. | Nat Med | 2023 |
| 37352851 | Donor perspectives on informed consent and use of biospecimens for brain organoid research. | Stem Cell Reports | 2023 |
| 37248328 | Human microglia show unique transcriptional changes in Alzheimer's disease. | Nat Aging | 2023 |
| 37461624 | Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies <i>LRRC4C, LHX5-AS1</i> and nominates ancestry-specific loci <i>PTPRK</i> , <i>GRB14</i> , and <i>KIAA0825</i> as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium. | medRxiv | 2023 |
| 37461597 | A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting. | bioRxiv | 2023 |
| 36879321 | Microglia specific deletion of miR-155 in Alzheimer's disease mouse models reduces amyloid-β pathology but causes hyperexcitability and seizures. | J Neuroinflammation | 2023 |
| 36711965 | Chronic evoked seizures in young pre-symptomatic APP/PS1 mice induce serotonin changes and accelerate onset on Alzheimer's disease-related neurpathology. | bioRxiv | 2023 |
| 34753215 | Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. | Neuropathology | 2022 |
| 35678406 | Genetics of Alzheimer Disease. | Continuum (Minneap Minn) | 2022 |
| 35620141 | Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies. | Neurol Genet | 2022 |
| 36490316 | SOBA: Development and testing of a soluble oligomer binding assay for detection of amyloidogenic toxic oligomers. | Proc Natl Acad Sci U S A | 2022 |
| 35931027 | Neighborhood matters: Altered lipid metabolism in APOE4 microglia causes problems for neurons. | Cell Stem Cell | 2022 |
| 34558120 | Glial TDP-43 and TDP-43 induced glial pathology, focus on neurodegenerative proteinopathy syndromes. | Glia | 2022 |
| 33393146 | Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. | J Genet Couns | 2021 |
| 33694209 | The pro-inflammatory microRNA miR-155 influences fibrillar β-Amyloid<sub>1</sub><sub>-42</sub> catabolism by microglia. | Glia | 2021 |
| 33889725 | <i>Neurology: Genetics</i> Year in Review. | Neurol Genet | 2021 |
| 34442358 | High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington's Disease: A Self-Reported Questionnaire Study. | J Pers Med | 2021 |
| 34690142 | Alzheimer's Disease Diagnostics Must Be Globally Accessible. | J Alzheimers Dis | 2021 |
| 34155411 | A trial of gantenerumab or solanezumab in dominantly inherited Alzheimer's disease. | Nat Med | 2021 |
| 34366363 | Subdural Hematoma as a Serious Complication of Huntington's Disease: An Observational Study. | J Huntingtons Dis | 2021 |
| 32211513 | Heterozygous <i>STUB1</i> missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. | Neurol Genet | 2020 |
| 31862541 | Loss of presenilin 2 age-dependently alters susceptibility to acute seizures and kindling acquisition. | Neurobiol Dis | 2020 |
| 33188183 | Molecular estimation of neurodegeneration pseudotime in older brains. | Nat Commun | 2020 |
| 33273466 | Author Correction: Molecular estimation of neurodegeneration pseudotime in older brains. | Nat Commun | 2020 |
| 32977230 | Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia. | J Neurol Sci | 2020 |
| 33002721 | Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease. | Parkinsonism Relat Disord | 2020 |
| 32741831 | Early-Onset Familial Alzheimer Disease Variant PSEN2 N141I Heterozygosity is Associated with Altered Microglia Phenotype. | J Alzheimers Dis | 2020 |
| 32588886 | Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1. | Hum Mol Genet | 2020 |
| 32750315 | Evolution of a Human-Specific Tandem Repeat Associated with ALS. | Am J Hum Genet | 2020 |
| 31020001 | Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. | Ann Clin Transl Neurol | 2019 |
| 31174609 | Resistance and resilience to Alzheimer's disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort. | Acta Neuropathol Commun | 2019 |
| 30847382 | Comparison of Pittsburgh compound B and florbetapir in cross-sectional and longitudinal studies. | Alzheimers Dement (Amst) | 2019 |
| 28887803 | Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra. | Cerebellum | 2018 |
| 30017468 | Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. | J Clin Lipidol | 2018 |
| 30412492 | A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1. | J Alzheimers Dis | 2018 |
| 29466914 | Inducible CRISPR genome editing platform in naive human embryonic stem cells reveals JARID2 function in self-renewal. | Cell Cycle | 2018 |
| 29480208 | A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways. | J Huntingtons Dis | 2018 |
| 29452984 | Quantitative cerebrovascular pathology in a community-based cohort of older adults. | Neurobiol Aging | 2018 |
| 29090527 | Novel pregnancy-triggered episodes of CAPOS syndrome. | Am J Med Genet A | 2018 |
| 28683563 | Modulation of Hematopoietic Lineage Specification Impacts TREM2 Expression in Microglia-Like Cells Derived From Human Stem Cells. | ASN Neuro | 2017 |
| 29036832 | Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son. | J Huntingtons Dis | 2017 |
| 28968243 | Enhanced retinal responses in Huntington's disease patients. | J Huntingtons Dis | 2017 |
| 26888760 | Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. | JIMD Rep | 2016 |
| 26589312 | Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. | JIMD Rep | 2016 |
| 25981964 | Loss of endophilin-B1 exacerbates Alzheimer's disease pathology. | Brain | 2015 |
| 26076170 | R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study. | JAMA Neurol | 2015 |
| 24319262 | The p53 transcription factor modulates microglia behavior through microRNA-dependent regulation of c-Maf. | J Immunol | 2014 |