Results 31 to 40 of about 126 (110)

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
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

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, Volume 66, Issue 9, Page 2138-2155, October 2026.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai, Kun‐Yuan Cheng, Yen‐Sen Lu, Ko‐Long Lin   +3 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Mitochondrial Encephalomyopathy inDrosophila [PDF]

The Journal of Neuroscience, 2006
Mitochondrial encephalomyopathies are common and devastating multisystem genetic disorders characterized by neuromuscular dysfunction and tissue degeneration. Point mutations in the human mitochondrialATP6gene are known to cause several related mitochondrial disorders: NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited ...
Alicia M, Celotto, Adam C, Frank, Steven W, McGrath, Tim, Fergestad, Wayne A, Van Voorhies, Karolyn F, Buttle, Carmen A, Mannella, Michael J, Palladino   +7 more
openaire   +2 more sources

A case report of an adult MELAS with symptom of digestive system

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.01 ...
Yang WANG, Yan⁃jun GUO, Wei⁃qin ZHAO, Yong⁃bo ZHANG   +3 more
doaj