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Last Updated: 03/06/2025
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Found 43 publications
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Journal: Journal of inherited metabolic disease
Published: January 17, 2024
Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.
Journal: Acta neurologica Belgica
Published: November 10, 2023
Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.
Journal: Pediatric neurology
Published: June 27, 2023
BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene
Journal: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
Published: June 25, 2023
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Journal: CNS neuroscience & therapeutics
Published: April 28, 2023
LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Journal: American journal of medical genetics. Part A
Published: November 18, 2022
Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.
Journal: Nature communications
Published: October 18, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Journal: Mitochondrion
Published: July 10, 2022
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
Journal: Molecular syndromology
Published: November 14, 2020
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Journal: Molecular genetics & genomic medicine
Published: October 02, 2020
N-(4-(2-chloro-4-(trifluoromethyl)phenoxy)phenyl)picolinamide as a new inhibitor of mitochondrial complex III: Synthesis, biological evaluation and computational simulations.
Journal: Bioorganic & medicinal chemistry letters
Published: February 03, 2020
Last Updated: 03/06/2025