Results 101 to 110 of about 15,339 (211)

Leigh syndrome: a rare case report [PDF]

, 2021
Institute of Mother and Child, Chisinau, Republic of MoldovaIntroduction. Mitochondrial diseases are the most common group of inherited metabolic disorders characterized by defects in energy production, caused by mutation of genes encoded by nuclear or ...
Blăniță, Daniela, Sacară, Victoria, Țurcan, Doina, Ușurelu, Natalia   +3 more
core  

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Home Safe Home: Safety Gains Through Telework During the Covid‐19 Pandemic

LABOUR, Volume 40, Issue 2, Page 162-192, June 2026.
ABSTRACT This paper exploits exogenous shifts in work organisation during the Covid‐19 pandemic to study the implications of hybrid and remote work arrangements on occupational safety. Combining accident registers and household survey microdata from Hungary, we are able to address potential selection and reporting bias, and reliably identify the ...
Bálint Menyhért, Szilárd Erhart
wiley   +1 more source

Childhood Moyamoya disease accompanying Leigh syndrome

, 2013
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to
Karakas, O., Çalik, M., Deveer, M., Çullu, N., Nurefsan Boyaci, F., Karakas, E.   +5 more
core  

P02-205 - Leigh Syndrome and Psychiatric Disorders

, 2010
IntroductionEvidence is accumulating that mitochondrial dysfunction is involved in the pathophysiology of some psychiatric disorders such as Bipolar Disorder and Schizophrenia.
R. Damak, J. Masmoudi, I. Baati, A. Jaoua, A. Feki, N. Halwani, L. Mnif, H. Hadjkacem, N. Ayadi   +8 more
core   +1 more source

A guide to diagnosis and treatment of Leigh syndrome

, 2013
Contains fulltext : 127558.pdf (Publisher’s version ) (Open Access)Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported.
Baertling, F., Smeitink, J.A., Koopman, W.J., Morava, E., Schaper, J., Distelmaier, F., Rodenburg, R.J., Koopman, W.J.H., Morava, Eva, Smeitink, J., Mayatepek, E.   +10 more
core   +1 more source

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

Cells
Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual.
Silvia Radenkovic, Isabelle Adant, Matthew J. Bird, Johannes V. Swinnen, David Cassiman, Tamas Kozicz, Sarah C. Gruenert, Bart Ghesquière, Eva Morava   +8 more
doaj   +1 more source

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

, 2014
Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood.
Chen, C.C.C., Lee, H.F., Tsai, C.R., Chi, C.S., Lee, H.J.   +4 more
core   +1 more source

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency [PDF]

Mitochondrial translation defects are a continuously growing group of disorders showing a large variety of clinical symptoms including a wide range of neurological abnormalities.
Gort, Laura, Yépez, Vicente A., Tort, Frederic, O'Callaghan, Mar, Muchart, Jordi., Jou, Cristina, Urreizti, Roser, Paredes Fuentes, Abraham José, Yubero, Delia, Ugarteburu López, Olatz, Artuch Iriberri, Rafael, Ortigoza Escobar, Juan D., Campistol Plana, Jaume, Muñoz Pujol, Gerard, Gagneur, Julien, Prokisch, Holger, Ribes Rubió, Maria Antònia, Garcia Cazorla, Angels, Gusic, Mirjana   +18 more
core   +1 more source