Results 61 to 70 of about 365 (121)

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]

Journal of Pediatric Neurology, 2017
AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Jean K, Mah, Yi-Wen, Chen
openaire   +2 more sources

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

Myocellular adaptations to short‐term weighted wheel‐running exercise are largely conserved during C26‐tumour induction in male and female mice

Experimental Physiology, Volume 111, Issue 6, Page 3039-3054, 1 June 2026.
Abstract This study investigated whether performing a translatable murine model of concurrent training after tumour induction affects adaptations in juvenile male and female tumour‐bearing mice. Male and female Balb/c mice were injected bilaterally with colon‐26 adenocarcinoma (C26) cells or PBS at 8 weeks of age.
Stavroula Tsitkanou, Pieter Koopmans, Calvin Peterson, Ana Regina Cabrera, Ruqaiza Muhyudin, Francielly Morena, Sabin Khadgi, Eleanor R. Schrems, Tyrone A. Washington, Kevin A. Murach, Nicholas P. Greene   +10 more
wiley   +1 more source

3D skeletal muscle model recapitulating the myostatin knockout phenotypic and mitochondrial metabolic features

Physiological Reports, Volume 14, Issue 12, June 2026.
3D muscle culture reproduces the metabolic characteristics associated with the myostatin knockout phenotype. Abstract 3D cell culture, using a variety of bioengineering techniques, enables muscle cells to be cultured in more structural and functional biomimetic conditions than 2D cell culture.
Barbara Vernus, Elodie Jublanc, Béatrice Chabi, Laurence Pessemesse, Zacharie Cheng‐Boivin, Benoit J. Gentil, Anne Bonnieu, Christelle Koechlin‐Ramonatxo, Bénédicte Goustard   +8 more
wiley   +1 more source

Melt Electrowriting High Resolution Poly(ethylene‐co‐vinyl acetate) Scaffolds for Soft Tissue Engineering

Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.
This work pioneers melt electrowriting (MEW) of polyethylene vinyl acetate (PEVA) to fabricate ultra‐compliant, high‐resolution scaffolds. By integrating microscale precision with soft tissue‐like biomechanics, PEVA overcomes stiffness‐driven limitations of conventional MEW polymers, establishing a mechanically biomimetic platform for soft tissue ...
Finn Snow, Darcy De Rauch, Lilith Mabel Caballero Aguilar, Darcy Millett, Jasley Wilding McBride, David R Nisbet, Magdalena Kita, Elena Pirogova, Robert Michail Ivan Kapsa, Anita Quigley   +9 more
wiley   +1 more source

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +1 more source

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source