Search Results - "Amado, Defne A."

Characterization of Parkinson's disease using blood-based biomarkers: A multicohort proteomic analysis by Posavi, Marijan, Diaz-Ortiz, Maria, Liu, Benjamine, Swanson, Christine R, Skrinak, R Tyler, Hernandez-Con, Pilar, Amado, Defne A, Fullard, Michelle, Rick, Jacqueline, Siderowf, Andrew, Weintraub, Daniel, McCluskey, Leo, Trojanowski, John Q, Dewey, Jr, Richard B, Huang, Xuemei, Chen-Plotkin, Alice S

“…Parkinson's disease (PD) is a progressive neurodegenerative disease affecting about 5 million people worldwide with no disease-modifying therapies. We sought…”
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Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching by Dawicki-McKenna, Jennine M., Felix, Alex J., Waxman, Elisa A., Cheng, Congsheng, Amado, Defne A., Ranum, Paul T., Bogush, Alexey, Dungan, Lea V., Maguire, Jean Ann, Gagne, Alyssa L., Heller, Elizabeth A., French, Deborah L., Davidson, Beverly L., Prosser, Benjamin L.

“…Alternative splicing of neuronal genes is controlled partly by the coordinated action of polypyrimidine tract binding proteins (PTBPs). While PTBP1 is…”
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The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics by Dratch, Laynie, Bardakjian, Tanya M, Johnson, Kelsey, Babaian, Nareen, Gonzalez-Alegre, Pedro, Elman, Lauren, Quinn, Colin, Guo, Michael H, Scherer, Steven S, Amado, Defne A

“…Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic…”
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Gene therapy for ALS: A review by Amado, Defne A., Davidson, Beverly L.

“…Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-therapy-based approaches, due to a paucity of therapeutic targets as well…”
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Novel data-driven subtypes and stages of brain atrophy in the ALS-FTD spectrum by Shen, Ting, Vogel, Jacob W, Duda, Jeffrey, Phillips, Jeffrey S, Cook, Philip A, Gee, James, Elman, Lauren, Quinn, Colin, Amado, Defne A, Baer, Michael, Massimo, Lauren, Grossman, Murray, Irwin, David J, McMillan, Corey T

“…TDP-43 proteinopathies represent a spectrum of neurological disorders, anchored clinically on either end by amyotrophic lateral sclerosis (ALS) and…”
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A single ALS center experience with clinical use of sodium phenylbutyrate‐taurursodiol by Quinn, Colin, Baer, Michael, Amado, Defne A., Kelley, Mary, Elman, Lauren

“…Introduction/Aims The aim of this study was to examine clinical utilization and discontinuation rates of sodium phenylbutyrate‐taurursodiol (PB‐TURSO) in a…”
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AAV-Mediated Progranulin Delivery to a Mouse Model of Progranulin Deficiency Causes T Cell-Mediated Toxicity by Amado, Defne A., Rieders, Julianne M., Diatta, Fortunay, Hernandez-Con, Pilar, Singer, Adina, Mak, Jordan T., Zhang, Junxian, Lancaster, Eric, Davidson, Beverly L., Chen-Plotkin, Alice S.

“…Adeno-associated virus-mediated gene replacement is emerging as a safe and effective means of correcting single-gene mutations affecting the CNS. AAV-mediated…”
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Multiple Streptococcal Brain Abscesses in a Patient Taking Secukinumab by Bhatla, Anjali, Asmar, Melissa, Amado, Defne A.

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Elevated Plasma Phosphorylated Tau 181 in Amyotrophic Lateral Sclerosis by Cousins, Katheryn A. Q., Shaw, Leslie M., Shellikeri, Sanjana, Dratch, Laynie, Rosario, Luis, Elman, Lauren B., Quinn, Colin, Amado, Defne A., Wolk, David A., Tropea, Thomas F., Chen‐Plotkin, Alice, Irwin, David J., Grossman, Murray, Lee, Edward B., Trojanowski, John Q., McMillan, Corey T.

“…Objective Plasma phosphorylated tau (p‐tau181) is reliably elevated in Alzheimer's disease (AD), but less explored is its specificity relative to other…”
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Disparities in Genetic Testing for Neurologic Disorders by Baldwin, Aaron, Copeland, Juliette, Azage, Meron, Dratch, Laynie, Johnson, Kelsey, Paul, Rachel A, Amado, Defne A, Baer, Michael, Deik, Andres, Elman, Lauren B, Guo, Michael, Hamedani, Ali G, Irwin, David J, Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin C, Tropea, Thomas F, Scherer, Steven S, Shinohara, Russell T, Hamilton, Roy H, Ellis, Colin A

“…Genetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system,…”
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts by Dratch, Laynie, Azage, Meron, Baldwin, Aaron, Johnson, Kelsey, Paul, Rachel A., Bardakjian, Tanya M., Michon, Sara-Claude, Amado, Defne A., Baer, Michael, Deik, Andres F., Elman, Lauren B., Gonzalez-Alegre, Pedro, Guo, Michael H., Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin, Tropea, Thomas F., Scherer, Steven S., Ellis, Colin A.

“…The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of neurologic…”
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TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy by Mao, Fei, Robinson, John L., Unger, Travis, Posavi, Marijan, Amado, Defne A., Elman, Lauren, Grossman, Murray, Wolk, David A., Lee, Edward B., Van Deerlin, Vivianna M., Porta, Sílvia, Lee, Virginia M. Y., Trojanowski, John Q., Chen-Plotkin, Alice S.

“…The neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TAR DNA-binding protein-43 (TDP-43) inclusions…”
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Digital markers of motor speech impairments in spontaneous speech of patients with ALS-FTD spectrum disorders by Shellikeri, Sanjana, Cho, Sunghye, Ash, Sharon, Gonzalez-Recober, Carmen, Mcmillan, Corey T, Elman, Lauren, Quinn, Colin, Amado, Defne A, Baer, Michael, Irwin, David J, Massimo, Lauren, Olm, Christopher A, Liberman, Mark Y, Grossman, Murray, Nevler, Naomi

“…To evaluate automated digital speech measures, derived from spontaneous speech (picture descriptions), in assessing bulbar motor impairments in patients with…”
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Pattern of distribution and cycling of SLOB, Slowpoke channel binding protein, in Drosophila by Jaramillo, Angela M, Zheng, Xiangzhong, Zhou, Yi, Amado, Defne A, Sheldon, Amanda, Sehgal, Amita, Levitan, Irwin B

“…SLOB binds to and modulates the activity of the Drosophila Slowpoke (dSlo) calcium activated potassium channel. Recent microarray analyses demonstrated…”
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Multiple Streptococcal Brain Abscesses in a Patient Taking Secukinumab by Bhatla, Anjali, Asmar, Melissa, Amado, Defne A

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