[HTML][HTML] Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders
CAPF Alves, MT Whitehead - Neurotherapeutics, 2024 - Elsevier
Mitochondrial diseases, a diverse and intricate group of disorders, result from both nuclear
DNA and mitochondrial DNA malfunctions, leading to a decrease in cellular energy (ATP) …
DNA and mitochondrial DNA malfunctions, leading to a decrease in cellular energy (ATP) …
Neuroimaging of mitochondrial cytopathies
CAPF Alves, FG Gonçalves, D Grieb… - Topics in Magnetic …, 2018 - journals.lww.com
Mitochondrial diseases are a complex and heterogeneous group of genetic disorders that
occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to …
occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to …
Neuroimaging of primary mitochondrial disorders in children: A review
TAGM Huisman, SF Kralik, NK Desai… - Journal of …, 2022 - Wiley Online Library
Mitochondrial disorders represent a diverse and complex group of entities typified by
defective energy metabolism. The mitochondrial oxidative phosphorylation system is …
defective energy metabolism. The mitochondrial oxidative phosphorylation system is …
[HTML][HTML] Neuroimaging in mitochondrial disorders
AL Gropman - Neurotherapeutics, 2013 - Elsevier
Mutations in either nuclear DNA or mitochondrial DNA can result in disruption of oxidative
phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease …
phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease …
Primary mitochondrial disorders of the pediatric central nervous system: neuroimaging findings
Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors
of metabolism in children, and they frequently affect the central nervous system …
of metabolism in children, and they frequently affect the central nervous system …
The many faces of paediatric mitochondrial disease on neuroimaging
F Baertling, D Klee, TB Haack, H Prokisch… - Child's Nervous …, 2016 - Springer
The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is
rapidly growing. As a consequence, the range of neuroimaging findings associated with …
rapidly growing. As a consequence, the range of neuroimaging findings associated with …
The use of neuroimaging in the diagnosis of mitochondrial disease
SD Friedman, DWW Shaw, G Ishak… - Developmental …, 2010 - Wiley Online Library
Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in
disease manifestations ranging from early death to abnormalities in all major organ systems …
disease manifestations ranging from early death to abnormalities in all major organ systems …
Roles for imaging in understanding the pathophysiology, clinical evaluation, and management of patients with mitochondrial disease
A Parry, PM Matthews - Journal of Neuroimaging, 2003 - Wiley Online Library
Primary mitochondrial disorders remain uncommon, but they enter into the differential
diagnosis for a broad range of syndromes. Functional and structural imaging methods offer …
diagnosis for a broad range of syndromes. Functional and structural imaging methods offer …
Neuroimaging of mitochondrial disease
RP Saneto, SD Friedman, DWW Shaw - Mitochondrion, 2008 - Elsevier
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a
variety of diagnostic tests for proper determination. Neuroimaging may play a significant role …
variety of diagnostic tests for proper determination. Neuroimaging may play a significant role …
Neuroimaging in mitochondrial disease
F Distelmaier, T Klopstock - Handbook of Clinical Neurology, 2023 - Elsevier
The anatomic complexity of the brain in combination with its high energy demands makes
this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation …
this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation …