Results 61 to 70 of about 9,115 (202)
Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances
MedComm, Volume 6, Issue 9, September 2025.Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei +6 more
wiley +1 more source
Tratamiento quirúrgico de ptosis palpebral miogénica adquirida [PDF]
, 2005 Objective: To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction.
Becerra, E.M. (E. M.) +3 more
core +1 more source
Brain and Behavior, Volume 15, Issue 8, August 2025.This single center retrospective study analyzed testing indications and yield of neuronal cell‐surface antigen antibody (NCSAA) and intracellular neuronal antigen antibody (INAA) testing for autoimmune encephalitis (AE) and paraneoplastic syndromes (PNS). Cognitive and psychiatric symptoms were the most common testing indications. The yield of positive
Hannah Ford +7 more
wiley +1 more source
Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]
, 2014 Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core +1 more source
Clinical Case Reports, Volume 13, Issue 8, August 2025.Cerebral angiography with External Carotid artery injection in (A, C) and internal carotid artery injection in (B): showing visualization of bilateral cavernous sinus from both external and internal carotid arteries. ABSTRACT Spontaneous bilateral CCF is rare and often misdiagnosed. Clinicians should consider CCF in patients with headache, tinnitus, or
Mohamed Elmarasi +5 more
wiley +1 more source
Mitochondrial tRNA Valine in Cardiomyopathies [PDF]
, 2015 Mitochondrial respiratory chain disorders are a heterogeneous group of diseases that clinically involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle.
Borstein, Belén +3 more
core +2 more sources
Acta Paediatrica, Volume 114, Issue 8, Page 1857-1867, August 2025.ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka +7 more
wiley +1 more source
Romanian Journal of Neurology, 2020 The mitochondrial myopathy consists of a heterogeneous group of conditions characterized by primary disfunction of mitochondrial respiratory chain causing muscle disease.
A. Dima +3 more
semanticscholar +1 more source
JIMD Reports, Volume 66, Issue 4, July 2025.ABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritage, even in well‐studied populations.
Surita Meldau +9 more
wiley +1 more source
Mitochondrial disease in children : from clinical presentation to genetic background [PDF]
, 2017 Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core +1 more source