Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Susan T, Iannaccone"'
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:
Ivana F. Audhya, Shelagh M. Szabo, Andrea Bever, Fiona O’Sullivan, Daniel C. Malone, David Feeny, Peter Neumann, Susan T. Iannaccone, P. Jayasinghe, Katherine L. Gooch
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-12 (2023)
Abstract Background The progression of Duchenne muscular dystrophy (DMD) is characterized by loss of ambulation, respiratory insufficiency, cardiomyopathy, and early mortality. DMD profoundly impacts health-related quality-of-life (HRQoL). However, f
Externí odkaz:
https://doaj.org/article/56e8e0813bd14337a96c803b7f7fba68
Autor:
Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Kimberly Goodspeed
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes for gamma-aminobutyric acid (GABA) transporter type 1
Externí odkaz:
https://doaj.org/article/5ddf0bcd9f754f219dbeedef88f64c30
Autor:
Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)
Summary: Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. TAMM41 encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synt
Externí odkaz:
https://doaj.org/article/3e06951a912a4d6080e971a99e6d10b0
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Autor:
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)
Abstract BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin‐5 for fusion of endoplasmic reticulum‐derived vesicles with the ER‐Golgi intermediate compartment (ERGIC) and the cis‐Golgi. Here, we report three
Externí odkaz:
https://doaj.org/article/36e02f0c64b8417881fabf19320857cf
Autor:
Leslie Nelson, Susan T. Iannaccone
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The use of social media in clinical trials, for recruiting and retention as well as for collecting data, has become increasingly common. However, little has been documented in respect to the guidelines for its use and the possible effects it may have
Externí odkaz:
https://doaj.org/article/efc55585f542401cbaaf1a8842762364
Autor:
Juan Shugert Aguayo, John M. Shelton, Wei Tan, Dinesh Rakheja, Chunyu Cai, Ahmed Shalaby, Jeon Lee, Susan T. Iannaccone, Lin Xu, Kenneth Chen, Dennis K. Burns, Yanbin Zheng
Publikováno v:
Biochemical and Biophysical Research Communications. 665:159-168
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
Publikováno v:
Advances in Therapy. 40:903-919
Spinal muscular atrophy (SMA) is a genetic, neuromuscular disease caused by deletions and/or mutations in the survival of motor neuron 1 (SMN1) gene leading to reduced SMN protein levels. Nusinersen, an intrathecally administered antisense oligonucle
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