Search Results - "Finkel, Richard S."

Spinal muscular atrophy: a changing phenotype beyond the clinical trials by Tizzano, Eduardo F, Finkel, Richard S

“…Highlights • SMA has evolving phenotypes due to improved standard of care and new treatments • The clinician should be alert to identify new patterns of motor…”
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Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124) by Finkel, Richard S.

“…Nucleotide changes within an exon can alter the trinucleotide normally encoding a particular amino acid, such that a new ‘‘stop’’ signal is transcribed into…”
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Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study by Finkel, Richard S, Dr, Chiriboga, Claudia A, MD, Vajsar, Jiri, MD, Day, John W, MD, Montes, Jacqueline, EdD, De Vivo, Darryl C, MD, Yamashita, Mason, MD, Rigo, Frank, PhD, Hung, Gene, MD, Schneider, Eugene, MD, Norris, Daniel A, PhD, Xia, Shuting, MS, Bennett, C Frank, PhD, Bishop, Kathie M, PhD

“…Summary Background Nusinersen is a 2′- O -methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is…”
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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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Observational study of spinal muscular atrophy type I and implications for clinical trials by Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, OʼHagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C

“…OBJECTIVES:Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). METHODS:Patients were enrolled…”
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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy by Finkel, Richard S, Flanigan, Kevin M, Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H Lee, Reha, Allen, Northcutt, Valerie J, Elfring, Gary, Barth, Jay, Peltz, Stuart W

“…Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the…”
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Longitudinal natural history of type I spinal muscular atrophy: a critical review by Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C, Darras, Basil T, Kolb, Stephen J, Finkel, Richard S

“…The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies…”
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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression by Montes, Jacqueline, McDermott, Michael P, Mirek, Elizabeth, Mazzone, Elena S, Main, Marion, Glanzman, Allan M, Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, De Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W, Tennekoon, Gihan, Finkel, Richard S, Darras, Basil T, Muntoni, Francesco, De Vivo, Darryl C, Mercuri, Eugenio

“…Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to…”
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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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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial by Buyse, Gunnar M, Prof, Voit, Thomas, Prof, Schara, Ulrike, Prof, Straathof, Chiara S M, MD, D'Angelo, M Grazia, MD, Bernert, Günther, MD, Cuisset, Jean-Marie, MD, Finkel, Richard S, Prof, Goemans, Nathalie, MD, McDonald, Craig M, Prof, Rummey, Christian, PhD, Meier, Thomas, PhD

“…Summary Background Cardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy. Based on preclinical and phase 2 evidence, we…”
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Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I by Harding, Brian N, Kariya, Shingo, Monani, Umrao R, Chung, Wendy K, Benton, Maryjane, Yum, Sabrina W, Tennekoon, Gihan, Finkel, Richard S

“…ABSTRACTNeuropathologic findings within the central and peripheral nervous systems in patients with spinal muscular atrophy type I (SMA-I) were examined in…”
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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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Neurofilament as a potential biomarker for spinal muscular atrophy by Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.

“…Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were…”
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Gene‐targeted therapies: Towards equitable development, diagnosis, and access by Gaviglio, Amy M., Skinner, Mark W., Lou, Lily J., Finkel, Richard S., Augustine, Erika F., Goldenberg, Aaron J.

“…Genomic and gene‐targeted therapies hold great promise in addressing the global issue of rare diseases. To achieve this promise, however, it is critical the…”
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Consensus Statement for Standard of Care in Spinal Muscular Atrophy by Wang, Ching H., Finkel, Richard S., Bertini, Enrico S., Schroth, Mary, Simonds, Anita, Wong, Brenda, Aloysius, Annie, Morrison, Leslie, Main, Marion, Crawford, Thomas O., Trela, Anthony

“…Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular…”
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Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability by Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

“…Objective: Charcot–Marie–Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials…”
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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 longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores by Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

“…OBJECTIVETo evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical…”
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Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy by Barnard, Alison M, Willcocks, Rebecca J, Finanger, Erika L, Daniels, Michael J, Triplett, William T, Rooney, William D, Lott, Donovan J, Forbes, Sean C, Wang, Dah-Jyuu, Senesac, Claudia R, Harrington, Ann T, Finkel, Richard S, Russman, Barry S, Byrne, Barry J, Tennekoon, Gihan I, Walter, Glenn A, Sweeney, H Lee, Vandenborne, Krista

“…To provide evidence for quantitative magnetic resonance (qMR) biomarkers in Duchenne muscular dystrophy by investigating the relationship between qMR measures…”
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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease by Cornett, Kayla M D, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R, Yum, Sabrina W, Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M, Finkel, Richard S, Sowden, Janet, Eichinger, Katy J, Herrmann, David N, Shy, Michael E, Burns, Joshua

“…Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. To…”
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