Publications by authors named "Sami Barmada"

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Sami J Barmada

Nat Genet· November 2025

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VISTA-FISH: Video Imaging with Spatial-Temporal Analysis by Fluorescent In Situ Hybridization.
Kun H Lee, Mingjia Yao, Javid Ghaemmaghami, Cynthia J DeLong, Neil Zhao, Sami J Barmada

bioRxiv· November 2025

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All roads lead to TDP43: Convergent mechanisms of TDP43 autoregulation.
Morgan R Miller, Sami J Barmada

J Cell Biol· October 2025

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A next-generation HDAC6 inhibitor for amyotrophic lateral sclerosis and frontotemporal dementia.
Rebecca E James, Michael Bekier, Pin-Tsun Justin Lee, Frederick A Schroeder, Lauren T Evans, Sami J Barmada

Brain· October 2025

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An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.
Julia E Warrick, Durga Attili, Trevor van Eeuwen, Benjamin Pastore, Sarah E Hoffmann-Weitsman, Sami J Barmada

Nucleic Acids Res· October 2025

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CTE-Type Tau Filaments in Alzheimer's Disease with Co-morbid LATE-NC.
Jaimin K Rana, Emile S Pinarbasi, Martin G Fernandez, Vikas Navratna, Kyle S Conway, Sami J Barmada

bioRxiv· October 2025

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An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.
Julia E Warrick, Durga Attili, Trevor van Eeuwen, Benjamin Pastore, Sarah E Hoffmann-Weitsman, Sami J Barmada

bioRxiv· September 2025

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Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS.
Michael E Bekier, Emile Pinarbasi, Gopinath Krishnan, Jack J Mesojedec, Madelaine Hurley, Sami J Barmada

J Clin Invest· September 2025

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Unilateral EMG-Guided Botulinum Toxin for Retrograde Cricopharyngeus Dysfunction: A Prospective Clinical and Neurophysiological Study.
Giuseppe Cosentino, Chiara Zaffina, Clara Zoccola, Mauro Fresia, Sara Merli, Sami Barmada

Toxins (Basel)· September 2025

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Molecular Visualization of Neuronal TDP43 Pathology .
Amanda L Erwin, Martin G Fernandez, Matthew L Chang, Durga Attili, Michael Bekier, Sami J Barmada

bioRxiv· August 2025

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Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation.
Shannon L Miller, Katelyn M Green, Bradley Crone, Jessica A Switzenberg, Elizabeth M H Tank, Sami J Barmada

Proc Natl Acad Sci U S A· August 2025

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Inhibiting glycogen synthase kinase 3 suppresses TDP-43-mediated neurotoxicity in a caspase-dependent manner.
Matthew Anthony White, Leon Crowley, Francesca Massenzio, Xingli Li, Michael Niblock, Sami J Barmada

Res Sq· May 2025

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Network-level high definition tDCS in a complex patient presentation.
Alexandru D Iordan, Victor Di Rita, Brett S Schneider, Sami J Barmada, Benjamin M Hampstead

Brain Stimul· April 2025

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Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia.
Xulin Liu, Sterre C M de Boer, Kasey Cortez, Jackie M Poos, Ignacio Illán-Gala, Sami Barmada

Alzheimers Dement· April 2025

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Psychotropic medication usage in sporadic versus genetic behavioral-variant frontotemporal dementia.
Juan-Camilo Vargas-Gonzalez, Nico Dimal, Kasey Cortez, Hilary Heuer, Leah K Forsberg, Sami Barmada

Alzheimers Dement· February 2025

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TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms.
Megan M Dykstra, Kaitlin Weskamp, Nicolás B Gómez, Jacob Waksmacki, Elizabeth Tank, Sami J Barmada

Cell Rep· January 2025

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Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS.
Michael E Bekier, Emile Pinarbasi, Jack J Mesojedec, Layla Ghaffari, Martina de Majo, Sami Barmada

bioRxiv· January 2025

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Gene-Specific Effects on Brain Volume and Cognition of in Frontotemporal Lobar Degeneration.
Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Sami Barmada

Neurology· October 2024

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Endogenous retrovirus-like proteins recruit UBQLN2 to stress granules and alter their functional properties.
Harihar M Mohan, Martin G Fernandez, Camellia Huang, Rita Lin, Jaimie H Ryou, Sami J Barmada

bioRxiv· October 2024

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Stress granule formation helps to mitigate neurodegeneration.
M Rebecca Glineburg, Evrim Yildirim, Nicolas Gomez, Genesis Rodriguez, Jaclyn Pak, Sami J Barmada

Nucleic Acids Res· September 2024

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TorsinA is essential for neuronal nuclear pore complex localization and maturation.
Sumin Kim, Sébastien Phan, Hung Tri Tran, Thomas R Shaw, Sarah H Shahmoradian, Sami J Barmada

Nat Cell Biol· September 2024

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AAGGG repeat expansions trigger -independent synaptic dysregulation in human CANVAS neurons.
Connor J Maltby, Amy Krans, Samantha J Grudzien, Yomira Palacios, Jessica Muiños, Sami J Barmada

Sci Adv· September 2024

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TDP43 autoregulation gives rise to shortened isoforms that are tightly controlled by both transcriptional and post-translational mechanisms.
Megan M Dykstra, Kaitlin Weskamp, Nicolás B Gómez, Jacob Waksmacki, Elizabeth Tank, Sami J Barmada

bioRxiv· July 2024

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Gene specific effects on brain volume and cognition of in frontotemporal lobar degeneration.
Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Sami Barmada

medRxiv· April 2024

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Symptomatic progression of frontotemporal dementia with the I383V variant.
Peter S Pressman, Danelle J Carter, Eliana Marisa Ramos, Joie Molden, Kaitlin Smith, Sami Barmada

Neurocase· February 2024

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