Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
Biochimica Et Biophysica Acta|November 4, 2008
Identification of novel mutations in five patients with mitochondrial encephalomyopathyLucia Valente, Daniela Piga, Eleonora Lamantea, et al.
Biochimica Et Biophysica Acta|March 13, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologiesAndrea Legati, Aurelio Reyes, Alessia Nasca, et al.
Neurology|June 11, 2003
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndromeMarco Crimi, Sara Galbiati, Isabella Moroni, et al.
Mitochondrion|April 16, 2019
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB geneSilvia Marchet, Federica Invernizzi, Flavia Blasevich, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
Mitochondrion|August 20, 2025
The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial diseaseLuisa Zupin, Valeria Capaci, Maria Teresa Bonati, et al.
Clinical Therapeutics|March 14, 2025
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label TrialSilvia Marchet, Alessia Catania, Anna Ardissone, et al.
Brain : a Journal of Neurology|May 31, 2007
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathyEdoardo Malfatti, Marianna Bugiani, Federica Invernizzi, et al.
American Journal of Human Genetics|June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyAurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
Neurology|March 3, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresLuca Bergonzini, Sara Carli, Silvia Pelle, et al.
Pageof 9