Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Lucy, Feng"'
Autor:
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-17 (2021)
Abstract During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies. Many of these trials have reported a clear increase in dystrophin prote
Externí odkaz:
https://doaj.org/article/0bb99a8919a34521a7b32c5a0a245087
Autor:
Haiyan Zhou, Jinhong Meng, Alberto Malerba, Francesco Catapano, Palittiya Sintusek, Susan Jarmin, Lucy Feng, Ngoc Lu‐Nguyen, Lianwen Sun, Virginie Mariot, Julie Dumonceaux, Jennifer E. Morgan, Paul Gissen, George Dickson, Francesco Muntoni
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 3, Pp 768-782 (2020)
Abstract Background Spinal muscular atrophy (SMA) is caused by genetic defects in the survival motor neuron 1 (SMN1) gene that lead to SMN deficiency. Different SMN‐restoring therapies substantially prolong survival and function in transgenic mice
Externí odkaz:
https://doaj.org/article/833a799c692e44558f9719c738478c3a
Autor:
Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Abstract The primary molecular endpoint for many Duchenne muscular dystrophy (DMD) clinical trials is the induction, or increase in production, of dystrophin protein in striated muscle. For accurate endpoint analysis, it is essential to have reliable
Externí odkaz:
https://doaj.org/article/043c3f49a55448e78a0c3e63f080d8bb
Autor:
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194540 (2018)
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of non
Externí odkaz:
https://doaj.org/article/cb7c92cc16454711a4912773fe14b1a9
Autor:
Lucy Feng, Carey Witkov
Publikováno v:
Journal of Student Research. 11
Spontaneous otoacoustic emissions have long been modeled using self-excited, nonlinear oscillators. The van der Pol oscillator is a common choice, as many of its properties reflect those of SOAEs: both can begin oscillation in the absence of a direct
Autor:
Daniel Natera‐de Benito, Julie A. Jurgens, Alison Yeung, Irina T. Zaharieva, Adnan Manzur, Stephanie P. DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J. Barry, Wai‐Man Chan, James E. Elder, John Christodoulou, Eleanor Hay, Eleina M. England, Pinki Munot, David G. Hunter, Lucy Feng, Danielle Ledoux, Anne O'Donnell‐Luria, Rahul Phadke, Elizabeth C. Engle, Anna Sarkozy, Francesco Muntoni
Publikováno v:
Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases sigma and delta (PTP sigma/delta) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c20c4e99b5b3fede7ebd7ae05e16d1
https://europepmc.org/articles/PMC8960342/
https://europepmc.org/articles/PMC8960342/
Autor:
D. Scaglioni, Matthew Ellis, F. Catapano, Francesco Muntoni, Lucy Feng, D. Chambers, Caroline Sewry, Rahul Phadke, Jennifer E. Morgan, Silvia Torelli
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Acta Neuropathologica Communications
Acta Neuropathologica Communications
The primary molecular endpoint for many Duchenne muscular dystrophy (DMD) clinical trials is the induction, or increase in production, of dystrophin protein in striated muscle. For accurate endpoint analysis, it is essential to have reliable, robust
Autor:
Alberto Malerba, Julie Dumonceaux, Lucy Feng, Virginie Mariot, Haiyan Zhou, Francesco Muntoni, Lianwen Sun, Susan Jarmin, Jinhong Meng, Jennifer E. Morgan, George Dickson, Ngoc Lu-Nguyen, F. Catapano, Paul Gissen, Palittiya Sintusek
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 3, Pp 768-782 (2020)
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 3, Pp 768-782 (2020)
BACKGROUND Spinal muscular atrophy (SMA) is caused by genetic defects in the survival motor neuron 1 (SMN1) gene that lead to SMN deficiency. Different SMN‐restoring therapies substantially prolong survival and function in transgenic mice of SMA. H
Publikováno v:
ClinicoEconomics and Outcomes Research. 11:789-798
Background According to the World Health Organization, glaucoma is a leading cause of irreversible blindness worldwide. By 2020, 80 million people will be affected by glaucoma in the world, which represents a significant financial burden to society.
Autor:
Alexander M. Rossor, Matt Parton, David S. Lynch, Michael G. Hanna, Enrico Bugiardini, Qiang Gang, Andrea Cortese, Jasper M. Morrow, Lucy Feng, Ros Quinlivan, Janice L. Holton, Aisling Carr, Alaa Khan, Alan Pittman, Mary M. Reilly, Rahul Phadke, Chris Turner, Julian Blake, Henry Houlden, Emma Matthews
Publikováno v:
Neuromuscular Disorders. 29:747-757
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort of 100 complex adult myopathy cases who remained u