Results 11 to 20 of about 189,072 (321)
Italian Journal of Pediatrics, 2020 Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori +17 more
doaj +1 more source
Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease
Biomolecules, 2020 Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Piergiorgio La Rosa +4 more
doaj +1 more source
Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis
Antioxidants, 2023 Inclusion body myositis (IBM) is an acquired inflammatory myopathy affecting proximal and distal muscles that leads to weakness in patients over 50.
Judith Cantó-Santos +15 more
doaj +1 more source
Epilepsia Open, 2023 Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli +11 more
doaj +1 more source
Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]
Pediatric Emergency Medicine Journal, 2022 Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon +5 more
doaj +1 more source
Muscular changes in Engelmann's disease. [PDF]
Archives of Disease in Childhood, 1980 In a case of Engelmann's disease in an 11-year-old Japanese boy the muscular changes were studied in detail. Muscle weakness was maximal about the pelvic girdle. Muscle biopsy showed the selective atrophy of type II fibres, and no degenerative change could be seen histologically, histochemically, or electron-microscopically.
Y Hirasawa +6 more
openaire +3 more sources
Journal of Applied Clinical Medical Physics, Volume 23, Issue 12, December 2022., 2022 Abstract Background Ultrasonography (US) and 99mTechnetium‐sestamibi scintigraphy (99mTc‐MIBI) are currently first‐line imaging modalities to localize parathyroid adenomas with sensitivities of 80% and 84%, respectively. Therefore, finding other modalities to further improve the diagnostic accuracy for preoperative localization is critically needed ...
Fangyi Liu +7 more
wiley +1 more source
Muscular Dystrophy: Disease Mechanisms and Therapies [PDF]
BioMed Research International, 2015 Progressive weakness and degeneration of skeletal muscles caused by genetic alterations fall into the category of muscular dystrophy. Muscular dystrophy occurs worldwide and affects all races. The overall incidence of muscular dystrophy varies among forms, as some forms are more common than others. Muscle loss and weakness are not necessarily caused by
Sachchida Nand Pandey +3 more
openaire +2 more sources
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Orphanet Journal of Rare Diseases, 2021 Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico +10 more
doaj +1 more source