Emerging therapies and challenges in spinal muscular atrophy
Farrar, Michelle A., Park, Susanna B., Vucic, Steve, Carey, Kate A., Turner, Bradley J., Gillingwater, Thomas H., Swoboda, Kathryn J., Kiernan, Matthew C.
Published in Annals of neurology (01.03.2017)
Published in Annals of neurology (01.03.2017)
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Journal Article
The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond
Sweney, Matthew T., MD, Newcomb, Tara M., LCGC, Swoboda, Kathryn J., MD
Published in Pediatric neurology (01.01.2015)
Published in Pediatric neurology (01.01.2015)
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Journal Article
Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation
Yano, Sho T., MD, PhD, Silver, Kenneth, MD, Young, Richard, MD, DeBrosse, Suzanne D., MD, Ebel, Roseànne S., MS, Swoboda, Kathryn J., MD, Acsadi, Gyula, MD, PhD
Published in Pediatric neurology (01.08.2017)
Published in Pediatric neurology (01.08.2017)
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Journal Article
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.
Published in Annals of neurology (01.04.2013)
Published in Annals of neurology (01.04.2013)
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Journal Article
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.
Published in American journal of human genetics (01.09.2009)
Published in American journal of human genetics (01.09.2009)
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Journal Article
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development
Vallabh, Sonia M., Nobuhara, Chloe K., Llorens, Franc, Zerr, Inga, Parchi, Piero, Capellari, Sabina, Kuhn, Eric, Klickstein, Jacob, Safar, Jiri G., Nery, Flavia C., Swoboda, Kathryn J., Geschwind, Michael D., Zetterberg, Henrik, Arnold, Steven E., Minikel, Eric Vallabh, Schreiber, Stuart L.
Published in Proceedings of the National Academy of Sciences - PNAS (16.04.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (16.04.2019)
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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study
Crawford, Thomas O, Paushkin, Sergey V, Kobayashi, Dione T, Forrest, Suzanne J, Joyce, Cynthia L, Finkel, Richard S, Kaufmann, Petra, Swoboda, Kathryn J, Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H, Trachtenberg, Felicia L, Plasterer, Thomas, Chen, Karen S
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Journal Article
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype
Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Ess, Kevin C.
Published in Neurobiology of disease (01.07.2020)
Published in Neurobiology of disease (01.07.2020)
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Journal Article
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood
Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L.
Published in Neurobiology of disease (01.07.2018)
Published in Neurobiology of disease (01.07.2018)
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Journal Article
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II
Davis, Rebecca Hurst, MS, RD, CSP, CD, Miller, Elizabeth A., MS, RD, CD, Zhang, Ren Zhe, MPH, Swoboda, Kathryn J., MD, FACMG
Published in The Journal of pediatrics (01.12.2015)
Published in The Journal of pediatrics (01.12.2015)
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Journal Article
Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec
Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.
Published in Molecular therapy. Methods & clinical development (11.06.2021)
Published in Molecular therapy. Methods & clinical development (11.06.2021)
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Journal Article
Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets
Denis, Melvin M., Tolley, Neal D., Bunting, Michaeline, Schwertz, Hansjörg, Jiang, Huimiao, Lindemann, Stephan, Yost, Christian C., Rubner, Frederick J., Albertine, Kurt H., Swoboda, Kathryn J., Fratto, Carolyn M., Tolley, Emilysa, Kraiss, Larry W., McIntyre, Thomas M., Zimmerman, Guy A., Weyrich, Andrew S.
Published in Cell (12.08.2005)
Published in Cell (12.08.2005)
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Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome
Sweney, Matthew T, Silver, Kenneth, Gerard-Blanluet, Marion, Pedespan, Jean-Michel, Renault, Francis, Arzimanoglou, Alexis, Schlesinger-Massart, Mylynda, Lewelt, Aga J, Reyna, Sandra P, Swoboda, Kathryn J
Published in Pediatrics (Evanston) (01.03.2009)
Published in Pediatrics (Evanston) (01.03.2009)
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Journal Article
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
Swoboda, Kathryn J, Scott, Charles B, Crawford, Thomas O, Simard, Louise R, Reyna, Sandra P, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan L, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Kissel, John T
Published in PloS one (19.08.2010)
Published in PloS one (19.08.2010)
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Journal Article
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials
Zaworski, Phillip, von Herrmann, Katharine M, Taylor, Shannon, Sunshine, Sara S, McCarthy, Kathleen, Risher, Nicole, Newcomb, Tara, Weetall, Marla, Prior, Thomas W, Swoboda, Kathryn J, Chen, Karen S, Paushkin, Sergey
Published in PloS one (08.03.2016)
Published in PloS one (08.03.2016)
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Journal Article
Phase II open label study of valproic acid in spinal muscular atrophy
Swoboda, Kathryn J, Scott, Charles B, Reyna, Sandra P, Prior, Thomas W, LaSalle, Bernard, Sorenson, Susan L, Wood, Janine, Acsadi, Gyula, Crawford, Thomas O, Kissel, John T, Krosschell, Kristin J, D'Anjou, Guy, Bromberg, Mark B, Schroth, Mary K, Chan, Gary M, Elsheikh, Bakri, Simard, Louise R
Published in PloS one (14.05.2009)
Published in PloS one (14.05.2009)
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Journal Article
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
Kwon, Jennifer M., Arya, Kapil, Kuntz, Nancy, Phan, Han C., Sieburg, Cory, Swoboda, Kathryn J., Veerapandiyan, Aravindhan, Assman, Beverly, Bader‐Weder, Silvia, Dickendesher, Travis L., Hansen, Jennifer, Lin, Helen, Yan, Ying, Rao, Vamshi K.
Published in Annals of clinical and translational neurology (01.06.2022)
Published in Annals of clinical and translational neurology (01.06.2022)
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Journal Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
Flanigan, Kevin M, Dunn, Diane M, von Niederhausern, Andrew, Soltanzadeh, Payam, Howard, Michael T, Sampson, Jacinda B, Swoboda, Kathryn J, Bromberg, Mark B, Mendell, Jerry R, Taylor, Laura E, Anderson, Christine B, Pestronk, Alan, Florence, Julaine M, Connolly, Anne M, Mathews, Katherine D, Wong, Brenda, Finkel, Richard S, Bonnemann, Carsten G, Day, John W, McDonald, Craig, Weiss, Robert B
Published in Human mutation (01.03.2011)
Published in Human mutation (01.03.2011)
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