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Publications by Rita Horvath
Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation
Brain
Medicine
Neurology
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II
Molecular and Cellular Biology
Cell Biology
Molecular Biology
Abnormal Retinal Thickening Is a Common Feature Among Patients With ARSACS-related Phenotypes: Table 1
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Charcot-Marie-Tooth Type2A Mfn2 Domain-Specific Mutants Deferentially Alter Mitochondrial Fusion Dynamics and Motility
Biophysical Journal
Biophysics
Consensus-Based Statements for the Management of Mitochondrial Stroke-Like Episodes
Wellcome Open Research
Biochemistry
Medicine
Genetics
Molecular Biology
Respiratory Chain Deficiency in Nonmitochondrial Disease
Neurology: Genetics
Neurology
Genetics
In Vitro Supplementation With Deoxynucleoside Monophosphates Rescues Mitochondrial DNA Depletion
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Phenotypic Convergence of Menkes and Wilson Disease
Neurology: Genetics
Neurology
Genetics
Whole Exome Sequencing and the Clinician: We Need Clinical Skills and Functional Validation in Variant Filtering
Journal of Neurology
Neurology
Cysteine Supplementation May Be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies
Journal of Neuromuscular Diseases
Neurology
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