Results 71 to 80 of about 419,034 (232)

Mitochondrial abnormalities in idiopathic inflammatory myopathies

Objectives: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of acquired muscle disorders characterised by immune-mediated muscle damage and systemic involvement.
Torri, Francesca, Ricci, Giulia, Siciliano, Gabriele, Mancuso, Michelangelo   +3 more
core   +1 more source

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

Effects of aerobic training in patients with mitochondrial myopathies

, 1998
We studied the physiologic adaptation of patients with mitochondrial myopathies to aerobic training. Ten patients underwent individually supervised, moderate-intensity aerobic training on a treadmill for 8 weeks.
ARGOV Z., DE STEFANO N., KARPATI G., CHEN J., ARNOLD D. L., TAIVASSALO T., MATTHEWS P. M., GENGE A.   +7 more
core   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
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

Myopathology, a 14-Year Siriraj Experience: What have we learned?

Siriraj Medical Journal, 2003
Neuromuscular laboratory, Department of Pathology Siriraj Hospital was established in 1989. Within fourteen years, 315 specimens from 304 patients were received. The patients' age ranged from 22-week gestation to 76 years old.
Tumtip Sangruchi, Teerin Liewluck
doaj  

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

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil

Arquivos de Neuro-Psiquiatria
Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti   +3 more
doaj   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Anti-mitochondrial antibodies are not a hallmark of severity in idiopathic inflammatory myopathies

, 2017
International audienceAnti‐mitochondrial antibodies type 2 (AMA2) are the hallmarks of primary biliary cholangitis (PBC) [1]. AMA2 have also been described in 11.3% of idiopathic inflammatory myopathies (IIM) then associatedwith cardiac involvement ...
Mariampillai, Kuberaka, Kuberaka Mariampillai, Lucile Musset, Musset, Lucile, Wladimir Mauhin, Jean-Luc Charuel, Charuel, Jean-Luc, Olivier Benveniste, Mauhin, Wladimir, Allenbach, Yves, Benveniste, Olivier, Yves Allenbach   +11 more
core   +1 more source