Results 71 to 80 of about 73,251 (284)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

Therapeutics and Clinical Risk Management, 2017
David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery ...
Feder D, Koch ME, Palmieri B, Fonseca FLA, Carvalho AAS   +4 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

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

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]

, 2018
Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi, Escudero Cuadrado, Luis María, Fernández Simón, Esther, Gallardo, Eduard, Gómez Gálvez, Pedro, Piñol Jurado, Patricia, Suárez Calvet, Xavier   +6 more
core   +1 more source

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Epigenetic reprogramming of muscle progenitors: inspiration for clinical therapies [PDF]

, 2015
In the context of regenerative medicine, based on the potential of stem cells to restore diseased tissues, epigenetics is becoming a pivotal area of interest.
Consalvi, Silvia, Saccone, Valentina, Sandona', Martina   +2 more
core   +8 more sources

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny, Hince, Dana, Patman, Shane, Travlos, Vivienne, Wilson, Andrew   +4 more
core   +1 more source