Results 91 to 100 of about 6,089,967 (287)
Annals of Movement Disorders, 2021 Leigh syndrome is a classical mitochondrial cytopathy with multisystemic presentation that can lead to death in the first few years of life; however, cases in adults have also been reported.
Vikash Agarwal +4 more
doaj +1 more source
Hypoglycemia in Mitochondrial Disorders [PDF]
, 2019 INTRODUCTION: The electron transport chain (ETC) in mitochondria functions to produce energy in the form of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders ...
Moats, Allison
core +1 more source
Large-scale analysis of disease pathways in the human interactome
, 2017 Discovering disease pathways, which can be defined as sets of proteins associated with a given disease, is an important problem that has the potential to provide clinically actionable insights for disease diagnosis, prognosis, and treatment ...
Agrawal, Monica +2 more
core +1 more source
Movement Disorders, EarlyView.Abstract Background Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.
Michael Tran Duong +186 more
wiley +1 more source
Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases
Molecules, 2022 NADH:ubiquinone oxidoreductase core subunit S8 (NDUFS8) is an essential core subunit and component of the iron-sulfur (FeS) fragment of mitochondrial complex I directly involved in the electron transfer process and energy metabolism.
Sifan Wang +6 more
doaj +1 more source
Arterial hypertension in Leigh syndrome due to m.13513G > A is multicausal, requiring an extensive search to identify its pathphysiology [PDF]
, 2023 Josef Finsterer
openalex +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
Scientific Reports, 2021 Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leberʼs hereditary optic neuropathy (LHON) or dementia/dysarthria.
Yoshihito Kishita +9 more
semanticscholar +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
A rare mitochondrial disorder: Leigh sydrome - a case report
Italian Journal of Pediatrics, 2010 Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable.
Shrikhande Dhananjay Y +4 more
doaj +1 more source