Results 71 to 80 of about 71,938 (313)

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David, Palmowski-Wolfe, Anja, Sekulic-Jablanovic, Marijana, Treves, Susan, Ullrich, Nina D., Zorzato, Francesco   +5 more
core   +2 more sources

Optimization of CEST MRI Reporter Protein Design Using Cation‐Pi Networks

Chemistry – A European Journal, EarlyView.
A novel engineering approach can produce reporter proteins for cell and viral therapy tracking with unique magnetic resonance imaging (MRI) signatures, detectable with chemical exchange saturation transfer (CEST). We discover how cation‐π interactions between amino acid groups can help us fine‐tune magnetic resonance properties for noninvasive ...
David E. Korenchan, Ethan J. French, Emerenziana Runco, Chetan B. Dhakan, Jinwu Yan, Hiroshi Nakashima, Michael T. McMahon, Assaf A. Gilad, Christian T. Farrar   +8 more
wiley   +1 more source

Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD

Frontiers in Pediatrics
This case report describes initiation of Nocturnal Non-Invasive Ventilation in home settings for two adolescents with Duchenne Muscular Dystrophy and different neuropsychiatric and neurocognitive comorbidities: one has Autism Spectrum Disorder, and the ...
Pien M. M. Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Philippe Collin, Philippe Collin, Sylvia Klinkenberg, Sylvia Klinkenberg, Sylvia Klinkenberg, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen, Jos. G. M. Hendriksen   +11 more
doaj   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims A pragmatic evaluation of bulbar function among adults with spinal muscular atrophy (awSMA) is needed, requiring the validation of a low‐cost, feasible outcome measure (OM). Maximum phonation time (MPT) and S/Z ratio (S/Z) are potential low‐cost OMs for bulbar function. This study aimed to evaluate the psychometric properties
Jeremy Slayter, Lauren Casey, Dorothy Drost, Shane McCullum, Allison Christie, Colleen O'Connell   +5 more
wiley   +1 more source

Fat embolism syndrome in a child with muscular dystrophy of Duchenne type bilateral femur fracture. A rare association.

Revista de la Facultad de Medicina, 2007
It is high the frequency of femur fracture in children with Duchenne Muscular Dystrophy (DMD), with an incidence between 15 and 44%. The fatty embolism is presented in fractures of long bones generally associated to trauma of high energy or to extensive ...
Enrique Vergara Amador, Fernando Galván Villamarín, Marcela Piña Quintero   +2 more
doaj  

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +2 more sources