Results 141 to 150 of about 27,503 (244)

Targeting Mitochondria in Aging‐Related Diseases: Therapeutic Potential and Obstacles

open access: yesMedComm, Volume 7, Issue 6, June 2026.
This article systematically summarized the specific mechanism of aging‐related diseases caused by mitochondrial dysfunction, and summarized the broad‐spectrum treatment methods and disease targeted treatment strategies for mitochondria. At the same time, it also pointed out the dilemma faced by mitochondrial targeted treatment.
Zijie Xiang   +12 more
wiley   +1 more source

A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Pre‐classification variant selection and reanalysis of undiagnosed cases are critical to optimise the quality improvement in the clinical delivery of whole genome sequencing in rare disease. Variant selection via virtual panels can expedite interpretation but may miss clinically relevant findings, leaving cases undiagnosed for rare disease.
Sarah Sonner   +9 more
wiley   +1 more source

Leigh Disease

open access: yes, 2009
Alexander K. C. Leung   +126 more
openaire   +2 more sources

Childhood moyamoya disease accompanying Leigh syndrome.

open access: yesJPMA. The Journal of the Pakistan Medical Association, 2014
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 "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating ...
Çullu, N.   +5 more
openaire   +2 more sources

Orofacial Tumours at the Oral and Maxillofacial Unit of Komfo Anokye Teaching Hospital: A 2‐Year Retrospective Study

open access: yesPublic Health Challenges, Volume 5, Issue 2, June 2026.
This retrospective study of 204 patients in Ghana identifies the mandible as the most common tumour site. Findings reveal a significant association between age and tumour type, with benign lesions predominating in younger adults and malignancies peaking in the elderly, emphasizing the need for age‐specific screening.
Gift Obiageri Maduagwu   +6 more
wiley   +1 more source

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

open access: yesClinical 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   +4 more
wiley   +1 more source

NDUFS4 : creation of the first Complex I mouse model mimicking Leigh Syndrome

open access: yes, 2012
Thesis (Ph.D.)--University of Rochester. School of Medicine and Dentistry. Dept. of Pharmacology and Physiology, 2007.Leigh syndrome is an inherited neurometabolic disorder primarily affecting muscle tissue and the nervous system.
Pinkert, Carl A.   +2 more
core  

Clinical, pathological and radiological survey of patients with Leigh syndrome.

open access: yes, 2009
Aim. The aim of this study was to evaluate the clinical, pathological and radiological survey of patients affected by Leigh syndrome. Methods. Eleven patients with Leigh disease were evaluated at Dokuz Eylül University, School of Medicine, Department of ...
YİŞ, ULUÇ   +4 more
core  

Family‐Centred Telehealth‐Enhanced Dietary Counselling for the Treatment of Protein‐Energy Malnutrition in Rural‐Living Older Adults Transitioning From Rehabilitation to Home: A Pilot Controlled Trial

open access: yesJournal of Human Nutrition and Dietetics, Volume 39, Issue 3, June 2026.
ABSTRACT Introduction Family carers have a key role in supporting malnourished older adults; yet, intervention evidence is lacking in the rehabilitation setting. This study aimed to explore the preliminary effects and acceptability of a family‐centred, telehealth‐enhanced dietary counselling intervention for treating protein‐energy malnutrition (PEM ...
Skye Marshall   +12 more
wiley   +1 more source

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