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Mitochondrion|April 16, 2013
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromesRaquel Montero, Manuela Grazina, Ester López-Gallardo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 12, 2017
mtDNA copy number associated with age of onset in familial amyloid polyneuropathyDiana Santos, Maria João Santos, Miguel Alves-Ferreira, et al.
Frontiers in Cellular Neuroscience|April 5, 2021
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic ProfileSandra Jacinto, Patrícia Guerreiro, Rita Machado de Oliveira, et al.
Pediatric Neurology|April 22, 2009
Pediatric mitochondrial respiratory chain disorders in the Centro region of PortugalLuísa Diogo, Manuela Grazina, Paula Garcia, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|December 19, 2023
Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?Marta Simões, Maria João Santos, Sara Martins, et al.
JIMD Reports|August 31, 2016
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological FeaturesRenata Oliveira, Ewen W Sommerville, Kyle Thompson, et al.
Acta Medica Portuguesa|March 16, 2021
MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of PortugalFilipe Silva, Filipa Ferreira, Pedro Faria, et al.
Human Molecular Genetics|July 31, 2012
Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent trafficDaniela M Arduíno, A Raquel Esteves, Luísa Cortes, et al.
Mitochondrion|November 4, 2016
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencyCarolina Ribeiro, Maria do Carmo Macário, Ana Teresa Viegas, et al.
Journal of Autism and Developmental Disorders|December 8, 2006
Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 geneCatarina Correia, Ana M Coutinho, Luísa Diogo, et al.
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