Results 71 to 80 of about 15,209,364 (314)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Skeletal muscle adaptations to high‐intensity, low‐volume concurrent resistance and interval training in recreationally active men and women

Physiological Reports
This study compared the structural and cellular skeletal muscle factors underpinning adaptations in maximal strength, power, aerobic capacity, and lean body mass to a 12‐week concurrent resistance and interval training program in men and women ...
Adam J. Sterczala, Nathaniel Rodriguez‐Ortiz, Evan D. Feigel, Kellen T. Krajewski, Brian J. Martin, Nicole M. Sekel, Mita Lovalekar, Christopher K. Kargl, Kristen J. Koltun, Carola Van Eck, Shawn D. Flanagan, Christopher Connaboy, Sophie L. Wardle, Thomas J. O'Leary, Julie P. Greeves, Bradley C. Nindl   +15 more
doaj   +1 more source

FoxO1: a novel insight into its molecular mechanisms in the regulation of skeletal muscle differentiation and fiber type specification

OncoTarget, 2016
FoxO1, a member of the forkhead transcription factor forkhead box protein O (FoxO) family, is predominantly expressed in most muscle types. FoxO1 is a key regulator of muscle growth, metabolism, cell proliferation and differentiation.
Meng Xu, Xiaoling Chen, Daiwen Chen, Bing Yu, Zhiqing Huang   +4 more
semanticscholar   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Protein profile of fiber types in human skeletal muscle: a single-fiber proteomics study

Skeletal Muscle, 2021
Background Human skeletal muscle is composed of three major fiber types, referred to as type 1, 2A, and 2X fibers. This heterogeneous cellular composition complicates the interpretation of studies based on whole skeletal muscle lysate.
Marta Murgia, Leonardo Nogara, Martina Baraldo, Carlo Reggiani, Matthias Mann, Stefano Schiaffino   +5 more
doaj   +1 more source

Coupling of mitochondrial function and skeletal muscle fiber type by a miR‐499/Fnip1/AMPK circuit

EMBO Molecular Medicine, 2016
Upon adaption of skeletal muscle to physiological and pathophysiological stimuli, muscle fiber type and mitochondrial function are coordinately regulated.
Jing Liu, Xijun Liang, Danxia Zhou, Ling Lai, Liwei Xiao, Lin Liu, Tingting Fu, Y. Kong, Qian Zhou, Rick B. Vega, Min-Sheng Zhu, D. Kelly, Xiang Gao, Z. Gan   +13 more
semanticscholar   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Ninety‐day experimental hyperthyroidism in male rats: Effects on muscle contractility, fiber composition, oxidative stress, and nerve conduction

Physiological Reports
Hyperthyroidism generates a hypermetabolic state that promotes adaptations in the skeletal muscle and peripheral nerves leading to deleterious effects. However, there is a paucity of data and conflicting evidence on the influence of thyroid hormones on ...
João Victor Capelli Peixoto, Marcelo Cardoso Ferrari, Sarah Lethícia Lourenço, Matheus Felipe Zazula, Maria Carolina Stipp, Olair Carlos Beltrame, Alexandra Acco, Katya Naliwaiko, Fernando Augusto Lavezzo Dias, Rosalvo Tadeu Hochmueller Fogaça   +9 more
doaj   +1 more source

Congenital Fiber Type Disproportion Genetics

Pediatric Neurology Briefs, 2008
Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France.
J Gordon Millichap
doaj   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source