Publications by authors named "Defne Amado"

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Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies.
Barbara E Spencer, David J Irwin, Vivianna M Van Deerlin, EunRan Suh, Edward B Lee, Defne Amado

PLoS One· December 2025

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Cumulative incidence of motor and cognitive features in the amyotrophic lateral sclerosis-frontotemporal degeneration spectrum.
Barbara E Spencer, Sharon X Xie, Daniel T Ohm, Lauren Elman, Colin C Quinn, Defne A Amado

Brain Commun· November 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Defne A Amado

Brain· October 2025

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Author Correction: AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice.
Defne A Amado, Ashley B Robbins, Katherine R Whiteman, Alicia R Smith, Guillem Chillon

Nat Commun· October 2025

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Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies.
Barbara E Spencer, David J Irwin, Vivianna M Van Deerlin, EunRan Suh, Edward B Lee, Defne Amado

medRxiv· July 2025

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Cumulative Incidence of Motor and Cognitive Features in the ALS-FTD Spectrum.
Barbara E Spencer, Sharon X Xie, Daniel T Ohm, Lauren Elman, Colin C Quinn, Defne Amado

medRxiv· June 2025

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AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice.
Defne A Amado, Ashley B Robbins, Katherine R Whiteman, Alicia R Smith, Guillem Chillon

Nat Commun· June 2025

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Scouring the human Hsp70 network uncovers diverse chaperone safeguards buffering TDP-43 toxicity.
Edward M Barbieri, Miriam Linsenmeier, Katherine R Whiteman, Yan Cheng, Sylvanne Braganza, Defne A Amado

bioRxiv· May 2025

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Cognitive reserve in ALS: the role of occupational skills and requirements.
Emma Rhodes, Sebleh Alfa, Hannah A Jin, Lauren Massimo, Lauren Elman, Defne Amado

Amyotroph Lateral Scler Frontotemporal Degener· August 2024

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A single ALS center experience with clinical use of sodium phenylbutyrate-taurursodiol.
Colin Quinn, Michael Baer, Defne A Amado, Mary Kelley, Lauren Elman

Muscle Nerve· July 2024

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Digital markers of motor speech impairments in spontaneous speech of patients with ALS-FTD spectrum disorders.
Sanjana Shellikeri, Sunghye Cho, Sharon Ash, Carmen Gonzalez-Recober, Corey T Mcmillan, Defne A Amado

Amyotroph Lateral Scler Frontotemporal Degener· May 2024

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Disparities in Genetic Testing for Neurologic Disorders.
Aaron Baldwin, Juliette Copeland, Meron Azage, Laynie Dratch, Kelsey Johnson, Defne A Amado

Neurology· March 2024

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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Laynie Dratch, Meron Azage, Aaron Baldwin, Kelsey Johnson, Rachel A Paul, Defne A Amado

J Neurol· February 2024

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AAV-based delivery of RNAi targeting Ataxin-2 improves survival, strength, and pathology in mouse models of rapidly and slowly progressive sporadic ALS.
Defne A Amado, Ashley B Robbins, Alicia R Smith, Katherine R Whiteman, Guillem Chillon Bosch

bioRxiv· February 2024

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The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Laynie Dratch, Tanya M Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Defne A Amado

Biology (Basel)· February 2024

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Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum.
Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, Defne A Amado

Transl Neurodegener· December 2023

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Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum.
Ting Shen, Jacob W Vogel, Jeffrey Duda, Jeffrey S Phillips, Philip A Cook, Defne A Amado

Res Sq· August 2023

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Cognitive reserve in ALS: The role of occupational skills and requirements.
Emma Rhodes, Sebleh Alfa, Hannah Jin, Lauren Massimo, Lauren Elman, Defne Amado

medRxiv· June 2023

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Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.
Jennine M Dawicki-McKenna, Alex J Felix, Elisa A Waxman, Congsheng Cheng, Defne A Amado

Nat Commun· May 2023

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Digital markers of motor speech impairments in natural speech of patients with ALS-FTD spectrum disorders.
Sanjana Shellikeri, Sunghye Cho, Sharon Ash, Carmen Gonzalez-Recober, Corey T McMillan, Defne A Amado

medRxiv· May 2023

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Elevated Plasma Phosphorylated Tau 181 in Amyotrophic Lateral Sclerosis.
Katheryn A Q Cousins, Leslie M Shaw, Sanjana Shellikeri, Laynie Dratch, Luis Rosario, Defne A Amado

Ann Neurol· November 2022

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Gene therapy for ALS: A review.
Defne A Amado, Beverly L Davidson

Mol Ther· December 2021

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TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy.
Fei Mao, John L Robinson, Travis Unger, Marijan Posavi, Defne A Amado

Acta Neuropathol· October 2021

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Multiple Streptococcal Brain Abscesses in a Patient Taking Secukinumab.
Anjali Bhatla, Melissa Asmar, Defne A Amado

Neurol Clin Pract· October 2021

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Characterization of Parkinson's disease using blood-based biomarkers: A multicohort proteomic analysis.
Marijan Posavi, Maria Diaz-Ortiz, Benjamine Liu, Christine R Swanson, R Tyler Skrinak, Defne A Amado

PLoS Med· October 2019

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