Results 81 to 90 of about 9,186 (248)
Frontiers in Neurology, 2011 Unpleasant visual symptoms including oscillopsia and dizziness may occur when there is unexpected motion of the visual world across the subject’s retina (‘retinal-slip’) as in an acute spontaneous nystagmus or on head movement with an acute ...
Barry M Seemungal +4 more
doaj +1 more source
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
, 2018 A 26-year-old man was referred with facial weakness, dysarthria, dysphagia, ophthalmoparesis and severely weak and wasted legs. His symptoms had begun when aged 20 with electric shock pains and paraesthesia in both feet progressing over 6 months to the ...
Brandner, S +10 more
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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
Mitochondrial disease and endocrine dysfunction [PDF]
, 2017 Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC +4 more
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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
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
Clinical Optometry, 2021 Dimitrios Karagiannis,1 Loukas Kontomichos,1 Vasileios Tzimis,1 Efstratios Parikakis,1 Georgios Batsos,1 Michael Karampelas2 1Second Department of Ophthalmology, Ophthalmiatreio Eye Hospital of Athens, Athens, Greece; 2Ophthalmology Department ...
Karagiannis D +5 more
doaj
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
Molecular Genetics and Metabolism Reports, 2016 Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT).
Massimiliano Filosto +8 more
doaj +1 more source