Zobrazeno 1 - 10
of 4 087
pro vyhledávání: '"M Flanigan"'
Autor:
Aravindhan Veerapandiyan, Anne M. Connolly, Katherine D. Mathews, Stanley Nelson, Craig McDonald, Richard S. Finkel, Vettaikorumakankav Vedanarayanan, Cuixia Tian, Susan Apkon, Julie A. Parsons, Jonathan H. Soslow, William Bryan Burnette, Kaitlin Y. Batley, Susan T. Iannaccone, Carolina Tesi Rocha, Kevin M. Flanigan, Diana Bharucha‐Goebel, Sarah Wright, Migvis Monduy, Simona Treidler, Ashutosh Kumar, Nancy L. Kuntz, Vamshi K. Rao, Rachel Schrader, Saunder M. Bernes, Vikki Ann Stefans, Jena M. Krueger, Marcia V. Felker, Omer Abdul Hamid, Arpita Lakhotia, Susan Matesanz, Partha S. Ghosh, Natalie Katz, Hoda Abdel‐Hamid, Chamindra G. Laverty, Bo Hoon Lee, Amy Harper, Leigh Ramos‐Platt, Diana Castro, Russell J. Butterfield, Crystal M. Proud, Craig M. Zaidman, Emma Ciafaloni
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 184-188 (2024)
Externí odkaz:
https://doaj.org/article/df1cf7b52fa3423cafb1b07b7a03d530
Autor:
Anthony A. Stephenson, Stefan Nicolau, Tatyana A. Vetter, Gabrielle P. Dufresne, Emma C. Frair, Jessica E. Sarff, Gregory L. Wheeler, Benjamin J. Kelly, Peter White, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 486-499 (2023)
Duchenne muscular dystrophy is an X-linked disorder typically caused by out-of-frame mutations in the DMD gene. Most of these are deletions of one or more exons, which can theoretically be corrected through CRISPR-Cas9-mediated knockin. Homology-inde
Externí odkaz:
https://doaj.org/article/3a64dafda5294680b6d821cf373f9511
Autor:
Liubov V. Gushchina, Adrienne J. Bradley, Tatyana A. Vetter, Jacob W. Lay, Natalie L. Rohan, Emma C. Frair, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101144- (2023)
Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%–11% of mutations, and duplications of exon 2 (Dup
Externí odkaz:
https://doaj.org/article/1dee77955bc4458f84bf563a278aee74
Autor:
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 30, Iss , Pp 479-492 (2022)
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function. Four exon-skipping approaches using antisense phospho
Externí odkaz:
https://doaj.org/article/c58f1dc6613c474f8ea734b55a626d47
Autor:
Kevin M. Flanigan, Tatyana A. Vetter, Tabatha R. Simmons, Megan Iammarino, Emma C. Frair, Federica Rinaldi, Louis G. Chicoine, Johan Harris, John P. Cheatham, Sharon L. Cheatham, Brian Boe, Megan A. Waldrop, Deborah A. Zygmunt, Davin Packer, Paul T. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 47-60 (2022)
In a phase 1/2, open-label dose escalation trial, we delivered rAAVrh74.MCK.GALGT2 (also B4GALNT2) bilaterally to the legs of two boys with Duchenne muscular dystrophy using intravascular limb infusion. Subject 1 (age 8.9 years at dosing) received 2.
Externí odkaz:
https://doaj.org/article/5d4cb4d3fc0f4849bd3ccf973f1e61e1
Autor:
Nicolas Wein, Tatyana A. Vetter, Adeline Vulin, Tabatha R. Simmons, Emma C. Frair, Adrienne J. Bradley, Liubov V. Gushchina, Camila F. Almeida, Nianyuan Huang, Daniel Lesman, Dhanarajan Rajakumar, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 279-293 (2022)
Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of
Externí odkaz:
https://doaj.org/article/937ffb28cf15459caaa9793b8cebec7b
Autor:
Camila F. Almeida, Florence Robriquet, Tatyana A. Vetter, Nianyuan Huang, Reid Neinast, Lumariz Hernandez-Rosario, Dhanarajan Rajakumar, W. David Arnold, Kim L. McBride, Kevin M. Flanigan, Robert B. Weiss, Nicolas Wein
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3′UTR region of the DMPK gene that sequesters musclebli
Externí odkaz:
https://doaj.org/article/64f77f1950614b9e88620a368751f95d
Autor:
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 325-340 (2021)
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene. Current exon-skipping therapies have sought to treat deletion mutations
Externí odkaz:
https://doaj.org/article/6912488c4ecd404facb01ca8c3e269ec
Autor:
Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th
Externí odkaz:
https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf
Autor:
Jeffrey W. Chen, Martin G. McCandless, Archis R. Bhandarkar, Patrick M. Flanigan, Nikita Lakomkin, Anthony L. Mikula, Giorgos D. Michalopoulos, Mohamad Bydon
Publikováno v:
Journal of Neurosurgery: Spine. :1-10
OBJECTIVE Proximal junctional kyphosis (PJK) is a complication of surgical management for adult spinal deformity (ASD) with a multifactorial etiology. Many risk factors are controversial, and their relative importance is not fully understood. The aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01fe9a7f8f2d98800400dfd9ca44c096
https://doi.org/10.3171/2023.2.spine221101
https://doi.org/10.3171/2023.2.spine221101