Results 71 to 80 of about 444,467 (232)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Educational Case: Mitochondrial Myopathy

Academic Pathology, 2019
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Calixto-Hope G. Lucas MD, Marta Margeta MD, PhD   +1 more
doaj   +1 more source

Increased mitochondrial mass in mitochondrial myopathy mice

, 2002
We have generated an animal model for mitochondrial myopathy by disrupting the gene for mitochondrial transcription factor A (Tfam) in skeletal muscle of the mouse.
Wibom, R., Westerblad, H., Larsson, N., Wilhelmsson, H., C. Graff, N.-G. Larsson, Graff, C., Wredenberg, A., H. H. Wiener, S. J. Burden, H. Wilhelmsson, Oldfors, A., H. Westerblad, Burden, S., Wiener, H., A. Oldfors, A. Wredenberg, R. Wibom   +17 more
core   +1 more source

Neurodegenerative stress related mitochondrial proteostasis [PDF]

, 2015
1.1 Background: Mitochondria are the main site of energy production in most cells. Furthermore, they are involved in a multitude of other essential cellular processes, such as regulating the cellular calcium pool, lipid metabolism and programmed cell ...
Fang, Lei
core   +1 more source

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

, 1992
We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity.
Glass, Stephen, TRITSCHLER, H.-J, ARNAUDO, E, DANON, M. J, ANDREETTA, F, DIMAURO, S, Zelaya, B.M. B.M., SHANSKE, S, VAMOS, E, Kadenbach, Bernhard, Bonilla, Euardo, Schon, Eric E.A., Vamos, Eszter, Tritschler, Hans Jürgen, Moraes, Carlos Torres, TELERMAN-TOPPET, N, Telerman Toppet, Nicole, Shanske, Sara, SCHON, E. A, MORAES, C. T, GLASS, S, ZELAYA, B. M, Danon, Moris Jak, BONILLA, E, KADENBACH, B, Andreetta, Francesca, Arnaudo, Enrica, DiMauro, Salvatore   +27 more
core   +1 more source

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
Klopstock, T., Walter, U., Meurers, B., Heinz Reichmann, R. Gold, Naumann, Markus, Seibel, P., M. Naumann, Klopstock, Thomas, U. Walter, Naumann, M., P. Seibel, T. Klopstock, Gold, R., Reichmann, Heinz, B. Meurers   +15 more
core   +1 more source

Adss1–HDAC3 Interaction: A Novel Mechanism for Epigenetic Regulation of Metabolism in Adipose Tissue

iNew Medicine, EarlyView.
ABSTRACT Obesity and its related metabolic disorders have emerged as global public health challenges with underlying mechanisms involving an imbalance between energy storage and expenditure in the adipose tissue. In recent years, with the deepening research on adipose tissue metabolism, the cross talk between metabolic enzymes and epigenetic regulation
Jiarui Zhao, Jingjing Sun, Yan Lu, Ying Yang   +3 more
wiley   +1 more source

Aerobic exercise in children with oxidative phosphorylation defects

Neurology International, 2010
Fatigue and exercise intolerance are symptoms in children with metabolic myopathy. Frequently this is combined with muscle pain in children with mitochondrial myopathy. Offering therapeutic advice remains challenging in this patient group.
Luuk Schreuder, Gera Peters, Ria Nijhuis-van der Sanden, Eva Morava   +3 more
doaj   +1 more source

Exercise intolerance in mitochondrial myopathy is not realted to lactic acidosis

, 2001
mitochondrial myopathy, exercise intolerance, human skeletal muscle, lactic ...
Quistorff, Bjørn, Vissing, John, Gansted, Uffe   +2 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source