Results 91 to 100 of about 2,563,441 (411)

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

A reference single-cell transcriptomic atlas of human skeletal muscle tissue reveals bifurcated muscle stem cell populations

Skeletal Muscle, 2020
Single-cell RNA-sequencing (scRNA-seq) facilitates the unbiased reconstruction of multicellular tissue systems in health and disease. Here, we present a curated scRNA-seq dataset of human muscle samples from 10 adult donors with diverse anatomical ...
Andrea J. De Micheli, Jason A. Spector, Olivier Elemento, Benjamin D. Cosgrove   +3 more
doaj   +1 more source

Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro, Manuela Dicarlo, Chiara Zecca, Daniele Urso, Maria Teresa Dell'Abate, Davide Vilella, Francesco Borlizzi, Roberta Zerlotin, Angela Oranger, Graziana Colaianni, Silvia Colucci, Maria Grano, Giancarlo Logroscino   +12 more
wiley   +1 more source

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Skeletal Muscle, 2011
Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent   +20 more
doaj   +1 more source

Optimized method for extraction of exosomes from human primary muscle cells

Skeletal Muscle, 2020
Skeletal muscle is increasingly considered an endocrine organ secreting myokines and extracellular vesicles (exosomes and microvesicles), which can affect physiological changes with an impact on different pathological conditions, including regenerative ...
Laura Le Gall, Zamalou Gisele Ouandaogo, Ekene Anakor, Owen Connolly, Gillian Butler Browne, Jeanne Laine, William Duddy, Stephanie Duguez   +7 more
doaj   +1 more source

MuscleJ: a high-content analysis method to study skeletal muscle with a new Fiji tool

Skeletal Muscle, 2018
Skeletal muscle has the capacity to adapt to environmental changes and regenerate upon injury. To study these processes, most experimental methods use quantification of parameters obtained from images of immunostained skeletal muscle.
A. Mayeuf-Louchart, D. Hardy, Q. Thorel, P. Roux, Lorna Guéniot, David Briand, A. Mazeraud, A. Bouglé, S. Shorte, B. Staels, F. Chrétien, H. Duez, A. Danckaert   +12 more
semanticscholar   +1 more source

Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis. [PDF]

, 2015
Endurance exercise, when performed regularly as part of a training program, leads to increases in whole-body and skeletal muscle-specific oxidative capacity.
Acheson, Achten, Alemo Munters, Alexander, Andersen, Atherton, Baar, Baggish, Bartlett, Bartlett, Bassett, Beere, Bonen, Bonne, Boon, Bosselaar, Bravo, Bruckbauer, Buijsse, Cantó, Carey, Chen, Chong, Coggan, Crowe, Crowe, Cureton, Cuthbertson, D'Antona, Davis, Davis, Dominy, Dorta, Dulloo, Dulloo, Dumke, Egawa, Egawa, Eid, Fan, Ferketich, Fitts, Ganio, Gibala, Gliemann, Gollnick, Goodyear, Graham, Green, Gualano, Gutiérrez-Salmeán, Hagberg, Harms, Hasler, Hawley, Hawley, Hodgson, Holloszy, Holloszy, Holloszy, Hoppeler, Howitz, Hüttemann, Ingjer, Ivy, Jones, Jung, Kalliokoski, Karlsson, Klausen, Koivisto, Labayen, Lee, Liang, Lin, Little, Lluís, López-Lluch, MacMahon, Martínez-Redondo, Matsakas, Maughan, Merrill, Molé, Montero, Moore, Moore, Morris, Murase, Murase, Murias, Murias, Narkar, Nieman, Nogueira, Olesen, Oscai, Ota, Park, Perez-Schindler, Philp, Pogozelski, Puigserver, Putman, Raben, Randell, Randell, Richter, Sahebkar, Saleem, Saltin, Saltin, Saltin, Saltin, Sawka, Scribbans, Shimotoyodome, Siemann, Simoneau, Smith, Spangenburg, Spina, Spina, Steinberg, Suchankova, Sun, Venables, Wang, White, Winder, Wright, Wright, Yan, Youn, Zhu   +134 more
core   +5 more sources

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

Skeletal Muscle, 2012
Background The use of the Cre/loxP system for gene targeting has been proven to be a powerful tool for understanding gene function. The purpose of this study was to create and characterize an inducible, skeletal muscle-specific Cre transgenic mouse ...
McCarthy John J, Srikuea Ratchakrit, Kirby Tyler J, Peterson Charlotte A, Esser Karyn A   +4 more
doaj   +1 more source

A personal historic perspective on the role of chloride in skeletal and cardiac muscle [PDF]

, 2017
During the early decades of the last century, skeletal muscle was held to be impermeable to chloride ions. This theory, based on shaky grounds, was famously falsified by Boyle and Conway in 1941.
Hutter, Otto F.
core   +1 more source