Emerging therapies and challenges in spinal muscular atrophy von Farrar, Michelle A., Park, Susanna B., Vucic, Steve, Carey, Kate A., Turner, Bradley J., Gillingwater, Thomas H., Swoboda, Kathryn J., Kiernan, Matthew C.

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The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond von Sweney, Matthew T., MD, Newcomb, Tara M., LCGC, Swoboda, Kathryn J., MD

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Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation von 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

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Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development von 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.

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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy von 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.

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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene von Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.

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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study von 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

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Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood von Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L.

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Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype von Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Ess, Kevin C.

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Cancer‐induced muscle atrophy is determined by intrinsic muscle oxidative capacity von Alves, Christiano R. R., Eichelberger, Eric J., Neves, Willian, Ribeiro, Márcio A. C., Bechara, Luiz R. G., Voltarelli, Vanessa A., Almeida, Ney R., Hagen, Lars, Sharma, Animesh, Ferreira, Julio C. B., Swoboda, Kathryn J., Slupphaug, Geir, Brum, Patricia C.

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Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II von Davis, Rebecca Hurst, MS, RD, CSP, CD, Miller, Elizabeth A., MS, RD, CD, Zhang, Ren Zhe, MPH, Swoboda, Kathryn J., MD, FACMG

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Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets von 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.

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Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function von Swoboda, Kathryn J., Prior, Thomas W., Scott, Charles B., McNaught, Teresa P., Wride, Mark C., Reyna, Sandra P., Bromberg, Mark B.

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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy von 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

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Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec von Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.

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SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials von 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

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Phase II open label study of valproic acid in spinal muscular atrophy von 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

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Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome von 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

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Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy von Araujo, Alexandra prufer de Queiroz Campos, MD, Araujo, Mario, MD, Swoboda, Kathryn J., MD

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Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study von Finkel, Richard S, Crawford, Thomas O, Swoboda, Kathryn J, Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H, Trachtenberg, Felicia, Forrest, Suzanne J, Kobayashi, Dione T, Chen, Karen S, Joyce, Cynthia L, Plasterer, Thomas

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