Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances. [PDF]
MedComm (2020)Mei J +6 more
europepmc +1 more source
Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases. [PDF]
J Pers Med, 2023 Cadoni G +6 more
europepmc +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Examining saliva proteomic dynamics in mitochondrial diseases from a perspective of intrinsic health. [PDF]
Sci RepZhao J +7 more
europepmc +1 more source
Mitochondrial disease and disorders of energy metabolism: A recognizable pattern of systemic disease
, 2000 C.A. Bay, G.L. Matika, Matteo Vecchio
openalex +1 more source
Oxidative modification of mitochondrial proteins and cell death in Parkinson's disease [PDF]
, 2002 W. Maruyama, Makoto Naoi
openalex +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Targeting multiple genetic defects of mitochondrial diseases with a single bacterial lipoate protein ligase. [PDF]
Sci AdvHu Z, Yu J, Liu Z, Jiang M, Zeng AP.
europepmc +1 more source
Animal Models of Mitochondrial Diseases Associated with Nuclear Gene Mutations. [PDF]
Acta Naturae, 2023 Averina OA +3 more
europepmc +1 more source
Multi‐Omics Integration for Advancing Glioma Precision Medicine
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia +4 more
wiley +1 more source