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Kathryn Bowles

Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience

SCHOLARLY PAPERS

3

DOWNLOADS

120

TOTAL CITATIONS

0

Scholarly Papers (3)

1.

17q21.31 Sub-Haplotypes Underlying H1-Associated Risk for Parkinson's Disease and Progressive Supranuclear Palsy Converge on Altered Glial Regulation

Number of pages: 98 Posted: 15 Jan 2020
Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, University of California, Irvine - Institute for Memory Impairments and Neurological Disorders, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Mount Sinai Health System - Icahn School of Medicine, Icahn School of Medicine - Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Department of Pathology, Icahn School of Medicine at Mount Sinai - Department of Pathology, National Institutes of Health - Laboratory of Neurogenetics, McGill University - Department of Human Genetics, German Center for Neurodegenerative Diseases (DZNE), University of Oulu - Institute of Clinical Medicine, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Washington University in St. Louis - Department of Psychiatry, New York University (NYU) - Fresco Institute for Parkinson’s and Movement Disorders, Icahn School of Medicine at Mount Sinai - Department of Neurosurgery, Icahn School of Medicine at Mount Sinai - Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai - Department of Neurosurgery, University of Washington - Department of Medicine, Brigham Young University - Department of Biology, Brigham Young University - Department of Biology, Hannover Medical School - Department of Neurology, Independent, Independent, Independent, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, University of California, Irvine - Institute for Memory Impairments and Neurological Disorders, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience and Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences
Downloads 52 (1,041,696)

Abstract:

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MAPT, 17q21.31, Haplotyples, Sub-haplotypes, parkinson's disease, Progressive supranuclear palsy, LRRC37A, Glia, Tauopathy

2.

Ancestry-Specific Structural Variation at 17q21.31 Reveals a Novel H1 Sub-Haplotype and Functional Effects on Tau Biology

Number of pages: 67 Posted: 14 Jul 2025
Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, National Institutes of Health - Neuromuscular Diseases Research Section, Mount Sinai Health System - Department of Genetics and Genomic Sciences, University of California, San Francisco (UCSF) - Quantitative Biosciences Institute, Mount Sinai Health System - Department of Genetics and Genomic Sciences, University of California, San Francisco (UCSF) - Department of Pathology, University of California, San Francisco (UCSF) - Quantitative Biosciences Institute, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences and Independent
Downloads 44 (1,145,425)

Abstract:

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Ancestry, Genomics, MAPT, 17q21.31 Haplotype, iPSC

3.

Development of Mapt S305 Mutation Models Exhibiting Elevated 4r Tau Expression, Resulting in Altered Neuronal and Astrocytic Function

Number of pages: 72 Posted: 07 Jul 2023
Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Department of Genetics and Genomic Sciences, Mount Sinai Health System - Ronald M. Loeb Center for Alzheimer's Disease, University of Rochester Medical Center, The Scripps Research Institute - Department of Chemistry, Icahn School of Medicine at Mount Sinai - Department of Genetics and Genomic Sciences and Independent
Downloads 24 (1,399,036)

Abstract:

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induced pluripotent stem cellsfrontotemporal dementiaMAPT mutationtau