Zobrazeno 1 - 10
of 314
pro vyhledávání: '"Richard S. Finkel"'
Autor:
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial
Externí odkaz:
https://doaj.org/article/ef602e623038483db8127100cc3b1503
Autor:
Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 819-829 (2022)
Abstract Objective The long‐term favorable safety profile of nusinersen provides an opportunity to consider a higher dose. We report on the relationships between nusinersen cerebrospinal fluid (CSF) exposure, biomarker levels, and clinical efficacy
Externí odkaz:
https://doaj.org/article/0511be6ebada4f91a7caec4dbaa8c369
Autor:
John W. Day, Richard S. Finkel, Eugenio Mercuri, Kathryn J. Swoboda, Melissa Menier, Rudolf van Olden, Sitra Tauscher-Wisniewski, Jerry R. Mendell
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 76-82 (2021)
Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional survival motor neuron 1 gene. Onasemnogene abeparvovec (formerly AVXS-101) is an adeno-associ
Externí odkaz:
https://doaj.org/article/fc9cb7ce21554effb0ed645d59c6f745
Autor:
Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are very limited. We identif
Externí odkaz:
https://doaj.org/article/16a5f223b95a41ae9a03dda5c91d43da
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Autor:
Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1713-1715 (2020)
Abstract The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized respon
Externí odkaz:
https://doaj.org/article/4e4fc26a6202461d90f33f1f848aad27
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631
Autor:
Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
Abstract Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured using the ProteinSimple® platform in plasma samples from infants with S
Externí odkaz:
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Externí odkaz:
https://doaj.org/article/292f91af6015425393cd2753ce74883b
Autor:
Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
Publikováno v:
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Ov
Externí odkaz:
https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3f
Autor:
Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher-Wisniewski
Publikováno v:
Journal of Neuromuscular Diseases. 10:389-404
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (SMN1) genes with variable copies of partially functional SMN2 gene. Intrathecal onasemnogene abeparvovec administrati