Zobrazeno 1 - 10
of 406
pro vyhledávání: '"J. Swoboda"'
Autor:
Jennifer M. Kwon, Kapil Arya, Nancy Kuntz, Han C. Phan, Cory Sieburg, Kathryn J. Swoboda, Aravindhan Veerapandiyan, Beverly Assman, Silvia Bader‐Weder, Travis L. Dickendesher, Jennifer Hansen, Helen Lin, Ying Yan, Vamshi K. Rao, US Expanded Access Program Working Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 810-818 (2022)
Abstract 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 no satisfactory treatment options access to risdiplam prior to commercial availabi
Externí odkaz:
https://doaj.org/article/348024081e884c6d917cf3217cdb8543
Autor:
Christiano R.R. Alves, Marco Petrillo, Rebecca Spellman, Reid Garner, Ren Zhang, Michael Kiefer, Sarah Simeone, Jihee Sohn, Eric J. Eichelberger, Emma Rodrigues, Elizabeth A. Arruda, Elise L. Townsend, Wildon Farwell, Kathryn J. Swoboda
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 524-538 (2021)
This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296). We applied a mixed-effect model to examine differences
Externí odkaz:
https://doaj.org/article/db25a4904c724193bfc8efc310be8954
Autor:
Eric J. Eichelberger, Christiano R. R. Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A. Hurt, John F. Staropoli, Kathryn J. Swoboda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1495-1501 (2021)
Abstract Despite newly available treatments for spinal muscular atrophy (SMA), novel circulating biomarkers are still critically necessary to track SMA progression and therapeutic response. To identify potential biomarkers, we performed whole‐blood
Externí odkaz:
https://doaj.org/article/b7bc22f9d042424d80a73177fd36cb9f
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:
Jennifer J. Siranosian, Flavia C. Nery, Christiano R. R. Alves, Benjamin A. Siranosian, Nicholas J. Lyons, Eric J. Eichelberger, Reid Garner, Salomé Da Silva Duarte Lepez, Alec J. Johnstone, Aravind Subramanian, Kathryn J. Swoboda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1158-1165 (2020)
Abstract Objective Recent advances in therapeutics have improved prognosis for severely affected spinal muscular atrophy (SMA) type 1 and 2 patients, while the best method of treatment for SMA type 3 patients with later onset of disease is unknown. T
Externí odkaz:
https://doaj.org/article/72ed395ae1464ce5bd19704a98667d36
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
Externí odkaz:
https://doaj.org/article/360ad6a6ef7c4ee28aed4090b30bd7e5
Exercise training reverses cancer-induced oxidative stress and decrease in muscle COPS2/TRIP15/ALIEN
Autor:
Christiano R.R. Alves, Willian das Neves, Ney R. de Almeida, Eric J. Eichelberger, Paulo R. Jannig, Vanessa A. Voltarelli, Gabriel C. Tobias, Luiz R.G. Bechara, Daniele de Paula Faria, Maria J.N. Alves, Lars Hagen, Animesh Sharma, Geir Slupphaug, José B.N. Moreira, Ulrik Wisloff, Michael F. Hirshman, Carlos E. Negrão, Gilberto de Castro Jr, Roger Chammas, Kathryn J. Swoboda, Jorge L. Ruas, Laurie J. Goodyear, Patricia C. Brum
Publikováno v:
Molecular Metabolism, Vol 39, Iss , Pp 101012- (2020)
Objective: We tested the hypothesis that exercise training would attenuate metabolic impairment in a model of severe cancer cachexia. Methods: We used multiple in vivo and in vitro methods to explore the mechanisms underlying the beneficial effects i
Externí odkaz:
https://doaj.org/article/be8202df0b80459fac41942eb9eb9047
Autor:
John P. Snow, Grant Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Jr, Kevin C. Ess
Publikováno v:
Neurobiology of Disease, Vol 141, Iss , Pp 104881- (2020)
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that encodes the neuronal specific α3 subunit of the Na,K-ATPase (NKA) pump. Mechanisms underlying pa
Externí odkaz:
https://doaj.org/article/179161d1b68b4de4ad48c56e56d5d6ad
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with
Externí odkaz:
https://doaj.org/article/2f149b8196854879821d3ece66218bf2
Autor:
Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 23-29 (2018)
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5 yea
Externí odkaz:
https://doaj.org/article/a07a4ebf62e64ec0ae48dd05176df7a0