Results 111 to 120 of about 2,143,667 (228)

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Acta Neuropathologica Communications, 2018
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini   +15 more
doaj   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Frontiers in Neurology
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti   +17 more
doaj   +1 more source

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. [PDF]

Acta Myol, 2020
Galleni Leão L, Santos Souza L, Nogueira L, Pavanello RCM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, FPaim J, Zatz M, Vainzof M.   +11 more
europepmc   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source

Mitochondrial permeability transition in skeletal muscle phenocopies muscle alterations seen in cancer cachexia and other wasting conditions

The Journal of Physiology, EarlyView.
Abstract figure legend Skeletal muscle wasting conditions are characterized by muscle fibre atrophy, mitochondrial respiratory dysfunction, mitochondrial depletion and fragmentation of acetylcholine receptor (AChR) cluster at the neuromuscular junction.
Maya Semel, Cole Lukasiewicz, Sarah Skinner, Mark R. Viggars, Sung Gi Noh, Martin Picard, Abbey‐Gale Mannings, Michael S. Cohen, Dennis W. Wolan, Terence E. Ryan, Russell T. Hepple   +10 more
wiley   +1 more source

Voltage‐gated potassium channels mediate thyroid hormone control of skeletal muscle excitability

The Journal of Physiology, EarlyView.
Abstract figure legend Thyroid hormone (TH)‐dependent remodelling of potassium (K+) channel networks regulates skeletal muscle (SkM) excitability. Triiodothyronine (T3), locally generated from thyroxine (T4) by type 2 deiodinase (D2), binds thyroid hormone receptors (TRα/β) and modulates transcription via thyroid response elements (TREs).
Annarita Nappi, Caterina Miro, Annunziata Gaetana Cicatiello, Ilaria Piccialli, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Rosa Sirica, Melania Murolo, Emery Di Cicco, Daniela Terracciano, Anna Pannaccione, Monica Dentice   +12 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Thyroid Dysfunction and Cognitive Impairment: Neural Mechanisms and Neurofeedback‐Based Interventions

Brain and Behavior, Volume 16, Issue 10, October 2026.
This graphical abstract illustrates the Thyroid‐Brain‐Cognition model, summarizing the multi‐level mechanisms linking thyroid dysfunction to cognitive impairment, and emphasizes neurofeedback as a non‐invasive intervention targeting brain network modulation and neuroplasticity enhancement.
Zhiqiang Ma, Yutong Liu, Mengyuan Chen, Mengyang Wang, Tao Liu   +4 more
wiley   +1 more source

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +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