Results 71 to 80 of about 5,374 (184)

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

Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis [PDF]

, 2016
Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic ...
Zhou Jian, Li Quwen, Wang Zhiping, Zhou Hai, Gao Peiyi   +4 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, Volume 600, Issue 12, Page 1699-1716, June 2026.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Stroke in young adult with MELAS syndrome [PDF]

, 2004
MELAS Sendromu; mitokondrial ensefalopati, laktik asidoz, tekrarlayan inme benzeri epizodlarla karekterize nadir görülen mitokondrial bir hastalıktır. Nöbetler, başağrısı, bulantı, kusma, egzersiz intoleransı ve ragged red fiber görülür.
Yakup Sarıca, Ali Özeren, Suzan Zorludemir, Figen Özcan, A. Filiz Koç   +4 more
core  

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report [PDF]

, 2019
BACKGROUND Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.
Schaller, André, Stippich, Christoph, Andelova, Michaela, Sinnreich, Michael, Hench, Juergen, Rüegg, Stephan, Bonati, Leo H, Sinnecker, Tim, Mayr, Michael, Frank, Stephan, Wuerfel, Jens   +10 more
core   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1118-1128, June 2026.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, Volume 4, Issue 2, June 2026.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

FASD and Intellectual Disability Equivalence: A Meta‐Analysis of Suggestibility During Forensic Interviews

Behavioral Sciences &the Law, Volume 44, Issue 3, Page 450-460, May/June 2026.
ABSTRACT Intellectual disability (ID) equivalence describes conditions in which individuals function cognitively and adaptively at levels comparable to ID without meeting IQ‐based diagnostic criteria. Fetal alcohol spectrum disorder (FASD) is characterised by impaired executive and adaptive functioning despite IQs often above the ID threshold ...
David J. Gilbert, Stephen Ikechukwu Azumara, Jacqueline M. Wheatcroft, Karen Steele, Penny Cook, Raja Mukherjee, Gisli Gudjonsson, Natalie Novick Brown   +7 more
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

Recurrent Miscarriages and Postpartum Heart Failure Can Be Phenotypic Manifestations of the m.3243A>G Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Female carriers of the MT‐TL1 variant m.3243A>G may manifest not only phenotypically with diabetes, renal insufficiency, hearing loss, and cardiomyopathy but also with recurrent miscarriages.
Sounira Mehri, Josef Finsterer
wiley   +1 more source