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Author Details

Thomas D Bird
University of Washington School of Medicine
1965
427
94
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35949106Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.Brain2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
37461624Multi-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.medRxiv2023
34753215Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.Neuropathology2022
35779466Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.Parkinsonism Relat Disord2022
35620141Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies.Neurol Genet2022
36825038Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.Mov Disord Clin Pract2022
36343257Aβ and tau prions feature in the neuropathogenesis of Down syndrome.Proc Natl Acad Sci U S A2022
36151869Amyloid-Related Imaging Abnormalities in the DIAN-TU-001 Trial of Gantenerumab and Solanezumab: Lessons from a Trial in Dominantly Inherited Alzheimer Disease.Ann Neurol2022
33893476Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.Arch Clin Neuropsychol2022
35314515Reader Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.Neurology2022
35178571TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans.Dis Model Mech2022
34366363Subdural Hematoma as a Serious Complication of Huntington's Disease: An Observational Study.J Huntingtons Dis2021
34442358High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington's Disease: A Self-Reported Questionnaire Study.J Pers Med2021
34632710CCGâ¿¢CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.EMBO Mol Med2021
30514930Genetic data and cognitively defined late-onset Alzheimer's disease subgroups.Mol Psychiatry2020
33240313<i>C9orf72</i> Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.Front Genet2020
32977230Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia.J Neurol Sci2020
32600828Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Neuromuscul Disord2020
32211513Heterozygous <i>STUB1</i> missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.Neurol Genet2020
30647434Correction: Genetic data and cognitively defined late-onset Alzheimer's disease subgroups.Mol Psychiatry2020
30327540Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.Genet Med2019
31970214Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.Mov Disord Clin Pract2019
31852801Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain.Sci Transl Med2019
31217590ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.Genet Med2019
31174609Resistance 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 Commun2019
30820047Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nat Genet2019
31020001Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.Ann Clin Transl Neurol2019
28887803Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra.Cerebellum2018
29409526Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.Mol Neurodegener2018
29517052Molecular genetic testing for hereditary ataxia: What every neurologist should know.Neurol Clin Pract2018
29480208A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways.J Huntingtons Dis2018
29311311Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer's disease.Proc Natl Acad Sci U S A2018
29325619Clinical approach to the patient with neurogenetic disease.Handb Clin Neurol2018
29343694Sertraline, Paroxetine, and Chlorpromazine Are Rapidly Acting Anthelmintic Drugs Capable of Clinical Repurposing.Sci Rep2018
29045054Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease.Genes Brain Behav2018
29090527Novel pregnancy-triggered episodes of CAPOS syndrome.Am J Med Genet A2018
29236290An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.Muscle Nerve2018
26990251Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).Am J Med Genet B Neuropsychiatr Genet2017
28213371Polygenic risk scores in familial Alzheimer disease.Neurology2017
28240725Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.Neuroreport2017
29036832Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.J Huntingtons Dis2017
28968243Enhanced retinal responses in Huntington's disease patients.J Huntingtons Dis2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
28623677Incidence of cognitively defined late-onset Alzheimer's dementia subgroups from a prospective cohort study.Alzheimers Dement2017
28714976Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.Nat Genet2017
27933653ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.Mov Disord2017
27943640The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.Am J Med Genet B Neuropsychiatr Genet2017
27770499Genetic factors in neurodegenerative diseases.Am J Med Genet B Neuropsychiatr Genet2017
27261500Defining SOD1 ALS natural history to guide therapeutic clinical trial design.J Neurol Neurosurg Psychiatry2017
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Stark Neurosciences Research Institute, Indiana University School of Medicine (IUSM)
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Rush University Medical Center
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