Search Results - "Swoboda, Kathryn J."

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

“…Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I)…”
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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 by Sweney, Matthew T., MD, Newcomb, Tara M., LCGC, Swoboda, Kathryn J., MD

“…Abstract Background ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including…”
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Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation by 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

“…Structured Abstract Objectives We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype distinct from alternating…”
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy by 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.

“…Objective Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent…”
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A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene by Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.

“…Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene,…”
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Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development by 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.

“…Reduction of native prion protein (PrP) levels in the brain is an attractive strategy for the treatment or prevention of human prion disease. Clinical…”
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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study by 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

“…The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Spinal Muscular Atrophy (SMA) has proved an enticing…”
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Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype by Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Ess, Kevin C.

“…Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that…”
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Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood by Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L.

“…Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as…”
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Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II by Davis, Rebecca Hurst, MS, RD, CSP, CD, Miller, Elizabeth A., MS, RD, CD, Zhang, Ren Zhe, MPH, Swoboda, Kathryn J., MD, FACMG

“…Objective To examine the impact of fasting and glucose tolerance on selected metabolic variables in children with spinal muscular atrophy (SMA) type II in a…”
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Cancer‐induced muscle atrophy is determined by intrinsic muscle oxidative capacity by 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.

“…We tested the hypothesis that cancer cachexia progression would induce oxidative post‐translational modifications (Ox‐PTMs) associated with skeletal muscle…”
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Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec by Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.

“…Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional…”
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Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function by Swoboda, Kathryn J., Prior, Thomas W., Scott, Charles B., McNaught, Teresa P., Wride, Mark C., Reyna, Sandra P., Bromberg, Mark B.

“…Denervation was assessed in 89 spinal muscular atrophy (SMA) 1, 2, and 3 subjects via motor unit number estimation (MUNE) and maximum compound motor action…”
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Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets by 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.

“…Platelets are specialized hemostatic cells that circulate in the blood as anucleate cytoplasts. We report that platelets unexpectedly possess a functional…”
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Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome by 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

“…Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its…”
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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 by 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

“…Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo. Two cohorts of subjects were…”
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Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy by Araujo, Alexandra prufer de Queiroz Campos, MD, Araujo, Mario, MD, Swoboda, Kathryn J., MD

“…Spinal muscular atrophy (SMA) is an important cause of death in children and SMA type I, also known as Werdnig-Hoffman disease , is the most severe form of…”
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SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials by 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

“…Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of…”
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Phase II open label study of valproic acid in spinal muscular atrophy by 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

“…Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased…”
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An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy by 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.

“…Objective The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had…”
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