Search Results - "Kuntz, Nancy L."

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Combination molecular therapies for type 1 spinal muscular atrophy by Harada, Yohei, Rao, Vamshi K., Arya, Kapil, Kuntz, Nancy L., DiDonato, Christine J., Napchan‐Pomerantz, Galia, Agarwal, Amit, Stefans, Vikki, Katsuno, Masahisa, Veerapandiyan, Aravindhan

“…Background Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking. Methods This…”
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Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study by Smith, Edward C., Conklin, Laurie S., Hoffman, Eric P., Clemens, Paula R., Mah, Jean K., Finkel, Richard S., Guglieri, Michela, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., Kerchner, Laurie, Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Jaros, Mark, Shale, Phil, Gordish-Dressman, Heather, Hagerty, Laura, Dang, Utkarsh J., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., McDonald, Craig M.

“…The differential mechanism of action of vamorolone compared to traditional corticosteroid anti-inflammatory drugs is attributed to the loss of gene…”
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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study by Beggs, Alan H., Byrne, Barry J., De Chastonay, Sabine, Haselkorn, Tmirah, Hughes, Imelda, James, Emma S., Kuntz, Nancy L., Simon, Jennifer, Swanson, Lindsay C., Yang, Michele L., Yu, Zi‐Fan, Yum, Sabrina W., Prasad, Suyash

“…ABSTRACT Introduction: X‐linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare…”
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Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy by Zelikovich, Aaron S., Quattrocelli, Mattia, Salamone, Isabella M., Kuntz, Nancy L., McNally, Elizabeth M.

“…The loss of dystrophin produces a mechanically fragile sarcolemma, causing muscle membrane disruption and muscle loss. The degree to which exercise alters…”
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Medical management of muscle weakness in Duchenne muscular dystrophy by Rivera, Sarah R, Jhamb, Sumit K, Abdel-Hamid, Hoda Z, Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T, Iannaccone, Susan T, Konersman, Chamindra G, Kuntz, Nancy L, McDonald, Craig M, Parsons, Julie A, Tesi Rocha, Carolina, Zaidman, Craig M, Butterfield, Russell J, Connolly, Anne M, Mathews, Katherine D

“…Duchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines…”
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A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene by Tranel, Elizabeth S., McGowan, Bridget, Drackley, Andy, Epstein, Leon G., Rao, Vamshi K., Kuntz, Nancy L., Schwaede, Abigail N.

“…Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy…”
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Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming by Quattrocelli, Mattia, Zelikovich, Aaron S, Jiang, Zhen, Peek, Clara Bien, Demonbreun, Alexis R, Kuntz, Nancy L, Barish, Grant D, Haldar, Saptarsi M, Bass, Joseph, McNally, Elizabeth M

“…In humans, chronic glucocorticoid use is associated with side effects like muscle wasting, obesity, and metabolic syndrome. Intermittent steroid dosing has…”
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International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update by Narayanaswami, Pushpa, Sanders, Donald B., Wolfe, Gil, Benatar, Michael, Cea, Gabriel, Evoli, Amelia, Gilhus, Nils Erik, Illa, Isabel, Kuntz, Nancy L., Massey, Janice, Melms, Arthur, Murai, Hiroyuki, Nicolle, Michael, Palace, Jacqueline, Richman, David, Verschuuren, Jan

“…OBJECTIVETo update the 2016 formal consensus-based guidance for the management of myasthenia gravis (MG) based on the latest evidence in the literature…”
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Postural Orthostatic Tachycardia Syndrome: A Clinical Review by Johnson, Jonathan N., MD, Mack, Kenneth J., MD, PhD, Kuntz, Nancy L., MD, Brands, Chad K., MD, Porter, Coburn J., MD, Fischer, Philip R., MD

“…Postural orthostatic tachycardia syndrome was defined in adult patients as an increase >30 beats per minute in heart rate of a symptomatic patient when moving…”
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Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled, dose‐titration trial by Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.

“…Introduction/Aims Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a…”
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Neuronal Voltage-Gated Potassium Channel Complex Autoimmunity in Children by Dhamija, Radhika, MD, Renaud, Deborah L., MD, Pittock, Sean J., MD, McKeon, Andrew, MD, Lachance, Daniel H., MD, Nickels, Katherine C., MD, Wirrell, Elaine C., MD, Kuntz, Nancy L., MD, King, Mary D., MD, Lennon, Vanda A., MD, PhD

“…Autoimmunity targeting voltage-gated potassium channel complexes have not been systematically documented in children. Identified in the Neuroimmunology…”
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Axonal Damage in Pediatric Multiple Sclerosis by Kuntz, Nancy L

“…Investigators from Georg August University, Gottingen, Germany, analyzed axonal pathology in brain biopsy and autopsy samples from 19 children with early…”
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial by Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R

“…Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the…”
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Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte by Shieh, Perry B, Bönnemann, Carsten G, Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J, Kuntz, Nancy L, Seferian, Andreea M

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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy by Finkel, Richard S, Mercuri, Eugenio, Darras, Basil T, Connolly, Anne M, Kuntz, Nancy L, Kirschner, Janbernd, Chiriboga, Claudia A, Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M, Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C

“…In this phase 3 trial, among infants with spinal muscular atrophy, those who received nusinersen were more likely to achieve major motor milestones and less…”
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Successful treatment of refractory myasthenia gravis using rituximab: a pediatric case report by Wylam, Mark E, Anderson, Peter M, Kuntz, Nancy L, Rodriguez, Vilmarie

“…We report the successful use of anti-CD20 therapy in a child with refractory myasthenia gravis (MG), an antibody-mediated autoimmune disease, who did not…”
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Hereditary Neuropathy with Liability to Pressure Palsies by Choi, Hyoung Won, Kuntz, Nancy L

“…Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy…”
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Laboratory Evaluation of Pediatric Autonomic Disorders by Kuntz, Nancy L., MD, Patwari, Pallavi P., MD

“…The autonomic nervous system controls a variety of fundamental physiological processes in the human body including regulation of breathing, heart rate, blood…”
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial by Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I. A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O’Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, McMillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

“…IMPORTANCE: Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen…”
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