Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Anne M Connolly"'
Autor:
Sarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, Gyula Acsadi, John Brandsema, Emma Ciafaloni, Basil T Darras, Susan T Iannaccone, Chamindra G Konersman, Nancy L Kuntz, Craig M McDonald, Julie A Parsons, Carolina Tesi Rocha, Craig M Zaidman, Russell J Butterfield, Anne M Connolly, Katherine D Mathews
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0240687 (2020)
IntroductionDuchenne muscular dystrophy (DMD) is a childhood onset muscular dystrophy leading to shortened life expectancy. There are gaps in published DMD care guidelines regarding recently approved DMD medications and alternative steroid dosing reg
Externí odkaz:
https://doaj.org/article/6715df668b4d4feb89a01ef4461b2d2e
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
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Jerry R. Mendell, Anne M. Connolly, Kelly J. Lehman, Danielle A. Griffin, Sohrab Z. Khan, Sachi D. Dharia, Lucía Quintana-Gallardo, Louise R. Rodino-Klapac
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 74-83 (2022)
Given the increasing number of gene transfer therapy studies either completed or underway, there is growing attention to the importance of preexisting adaptive immunity to the viral vectors used. The recombinant viral vectors developed for gene trans
Externí odkaz:
https://doaj.org/article/9eafd3b4081a49d49fbad8f206d488cc
Autor:
Anne M. Connolly, Craig M. Zaidman, John F. Brandsema, Han C. Phan, Cuixia Tian, Xueping Zhang, Jack Li, Mark D. Eisner, Ewa Carrier
Publikováno v:
Journal of Neuromuscular Diseases. :1-15
BACKGROUND: Duchenne muscular dystrophy (DMD) is a neuromuscular disease stemming from dystrophin gene mutations. Lack of dystrophin leads to progressive muscle damage and replacement of muscle with fibrotic and adipose tissue. Pamrevlumab (FG-3019),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c309bab1330d28510e2abd0cebb430fa
https://doi.org/10.3233/jnd-230019
https://doi.org/10.3233/jnd-230019
Autor:
Amy Bartlett, Stephen J. Kolb, Allison Kingsley, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T. Iannaccone, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Christopher S. Coffey, Jon W. Yankey, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, W. David Arnold, John T. Kissel
Publikováno v:
Contemporary Clinical Trials Communications, Vol 11, Iss , Pp 113-119 (2018)
Background/Aims: Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly challenging pop
Externí odkaz:
https://doaj.org/article/c20105f5211a4c60a677082f4b5666d9
Autor:
Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Hum Mutat
Human mutation, vol 43, iss 4
Human mutation, vol 43, iss 4
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9339c60faf200ac6ffe2bfe97b06d1
https://doi.org/10.1002/humu.24343
https://doi.org/10.1002/humu.24343
Publikováno v:
Expert Opinion on Orphan Drugs. 9:199-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d27d5d3242a2b4a610c473bb857b5c21
https://doi.org/10.1080/21678707.2021.2003778
https://doi.org/10.1080/21678707.2021.2003778
Autor:
John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski
Publikováno v:
Value Health
OBJECTIVES: The objective of this study was to examine the psychometric properties of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL 4.0 GCS) in Duchenne muscular dystrophy (DMD), a rare, severely debilitating, and ultimately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8
https://doi.org/10.1016/j.jval.2021.05.016
https://doi.org/10.1016/j.jval.2021.05.016
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy
Autor:
Paula R, Clemens, Vamshi K, Rao, Anne M, Connolly, Amy D, Harper, Jean K, Mah, Craig M, McDonald, Edward C, Smith, Craig M, Zaidman, Tomoyuki, Nakagawa, Eric P, Hoffman
Publikováno v:
Journal of neuromuscular diseases. 9(4)
Duchenne muscular dystrophy (DMD) is a rare, genetic disease caused by mutations in the DMD gene resulting in an absence of functional dystrophin protein. Viltolarsen, an exon 53 skipping therapy, has been shown to increase endogenous dystrophin leve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47ca6aba65bef2bfaee8ccc371db3a3c
https://pubmed.ncbi.nlm.nih.gov/35634851
https://pubmed.ncbi.nlm.nih.gov/35634851