Zobrazeno 1 - 10
of 202
pro vyhledávání: '"Jennifer M. Kwon"'
Autor:
Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M. Kwon, Megan A. Waldrop, Russell J. Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A. Parsons, Melissa Gibbons, Amy Brower
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 34 (2024)
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening,
Externí odkaz:
https://doaj.org/article/a370ea9ee98f4cf2a11e3bc0b6be66b6
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:
Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplanta
Externí odkaz:
https://doaj.org/article/8482e32216114128813a3f96d32230a9
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1381-1389
Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report f
Autor:
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Publikováno v:
Nature Medicine. 28:1390-1397
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for pre
Autor:
Sandra J. Dawe, Sean T. Mochal, Jennifer M. Kwon, Bethany R. Zeitler, Michael F. Cogley, Amy E. Wiberley-Bradford, Zachary D. Piro, Mathew M. Harmelink, Mei W. Baker
Publikováno v:
Neuromuscular Disorders. 32:135-141
Spinal muscular atrophy was recently added to the Wisconsin newborn screening panel. Here we report our screening methods, algorithm, and outcomes. Methods: A multiplex real-time PCR assay was used to identify newborns with homozygous SMN1 exon 7 del
Autor:
Isabelle Desguerre, Michelle A. Farrar, Jennifer M. Kwon, Hugh J. McMillan, Kayoko Saito, Crystal Proud, Elizabeth Kichula
Publikováno v:
Muscle & Nerve
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by biallelic mutations in the survival motor neuron 1 (SMN1) gene. SMA is characterized by motor neuron degeneration, resulting in progressive muscle atrophy an
Autor:
Dominic O. Co, Jennifer M. Kwon
Publikováno v:
Critical care clinics. 38(2)
Autoimmune encephalitis is characterized by subacute onset of the altered mental status that can rapidly progress to autonomic instability and refractory seizures requiring intensive care. It is mediated by autoantibodies that bind to synaptic surfac
Nusinersen for older patients with spinal muscular atrophy: A real‐world clinical setting experience
Autor:
Debra Guntrum, Erin Collins, Katy Eichinger, Lindsay Baker, Emma Ciafaloni, Jennifer M. Kwon, Aravindhan Veerapandiyan
Publikováno v:
Muscle & Nerve. 61:222-226
Introduction Clinical trials data concerning use of nusinersen in older spinal muscular atrophy (SMA) patients is lacking. We describe our center's experience in using intrathecal nusinersen for older patients in the clinical setting. Methods Retrosp
Autor:
Jennifer M. Kwon, Lainie Friedman Ross
Publikováno v:
NeoReviews. 20:e437-e451
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (SMN1) gene. SMA is characterized by loss of lower motor neurons (anterior horn cells) in the spinal cord and