Results 121 to 130 of about 419,034 (232)

Hypothyroid myopathy and its association with MICU1 gene mutations: a clinical caseauthors

Ожирение и метаболизм
Thyroid hormones are involved in the activation of glycogenolysis and mitochondrial oxidative phosphorylation. Kocher–Debré–Semelaigne Syndrome, also known as hypothyroid myopathy, is characterized by reduced glycogenolytic activity, leading to glycogen ...
M. A. Perepelova, V. K. Slokva, E. A. Pigarova, A. S. Shutova, A. A. Kolodkina, A. V. Perepelov, L. K. Dzeranova   +6 more
doaj   +1 more source

Kinematic‐calcium loops unravel impaired excitation–contraction coupling in MELAS‐affected cardioids

The Journal of Physiology, EarlyView.
Abstract figure legend Representation of kinematic and calcium transient loop with respect to traditional time coplotting. Abstract Impaired Ca2+ handling, and in particular leakage from the sarcoplasmic reticulum, is a critical mechanism in metabolic diseases affecting the heart.
Margherita Burattini, Annalinda Pisano, Maria Gemma Pignataro, Giulia d'Amati, Silvana Pinelli, Minh Long Hoang, Francesco Paolo Lo Muzio, Michele Miragoli   +7 more
wiley   +1 more source

Myopathies mitochondriales oculaires: un eventail de presentations cliniques. [Ocular mitochondrial myopathies: a spectrum of clinical presentations]

, 1998
PURPOSE: To determine the spectrum of clinical presentations of patients with chronic progressive external ophthalmoplegia (CPEO). METHODS: Retrospective study of 13 cases with CPEO.
Hirt, L., Glutz von Blotzheim, S., Borruat, F. X.   +2 more
core  

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies.

, 2014
Although mitochondrial dysfunction and oxidative stress have been proposed to play a crucial role in several types of muscular dystrophy (MD), whether a causal link between these two alterations exists remains an open question.
Sorato E, Merlini L, BERNARDI, PAOLO, DI LISA, FABIO, CANTON, MARCELLA, Gualandi F, MENAZZA, SARA, BONALDO, PAOLO, ZULIAN, ALESSANDRA, Sabatelli P, Zulian A, Menazza S, Di Lisa F, Bernardi P, Bonaldo P, Canton M   +15 more
core   +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

Mitochondrial abnormalities in myofibrillar myopathies

, 2013
Histological mitochondrial changes are generally found to be associated with late onset myofibrillar myopathies (MFMs). How these changes contribute to the pathogenesis of MFMs is unknown.
Hauburger, Anja, Kley, Rudolf, Schneider, Ilka, Stoltenburg, Gisela, Joshi, Pushpa R., Weis, Joachim, Vorgerd, Matthias, Claeys, Kristl, Kress, Wolfram, Hanisch, Frank, Deschauer, Marcus   +10 more
core   +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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

[Surgical treatment of ptosis in cases of mitochondrial myopathies and severe myasthenia]

, 1994
: The authors describe various surgical treatments for ptosis due to mitochondrial myopathies and myasthenia gravis. Six patients out of ten underwent an anterior approach levator resection.
Quaranta-Leoni, F M, Di Nicola, D, Dickmann, A, Savino, G   +3 more
core  

Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies. [PDF]

Genes (Basel), 2020
Gervasoni J, Primiano A, Marini F, Sabino A, Biancolillo A, Calvani R, Picca A, Marzetti E, Persichilli S, Urbani A, Servidei S, Primiano G.   +11 more
europepmc   +1 more source