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International Journal of Molecular Sciences|May 28, 2020
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated NeurodegenerationPaolo Santambrogio, Maddalena Ripamonti, Chiara Paolizzi, et al.
Stem Cell Reports|July 30, 2021
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCsFlavia Palombo, Camille Peron, Leonardo Caporali, et al.
Gene Therapy|July 10, 2025
Transabdominal ultrasound guided AAV9-GFP delivery in fetal pigs: a translational and minimally invasive model for in utero fetal gene therapyAlessia Di Donfrancesco, Alessia Adelizzi, Anastasia Giri, et al.
EMBO Molecular Medicine|November 19, 2016
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathwayMarcello Ziosi, Ivano Di Meo, Giulio Kleiner, et al.
Pharmaceutics|January 21, 2023
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In VitroEnrica Zanuttigh, Kevork Derderian, Miriam A Güra, et al.
Scientific Reports|May 13, 2016
C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypesMette Camilla Kriegbaum, Benedikte Jacobsen, Annette Füchtbauer, et al.
Annals of Clinical and Translational Neurology|May 15, 2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseasesChiara Cavestro, Francesca Morra, Andrea Legati, et al.
Cell Metabolism|December 25, 2016
Transcription Factor EB Controls Metabolic Flexibility during ExerciseGelsomina Mansueto, Andrea Armani, Carlo Viscomi, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Scientific Reports|September 14, 2017
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiencyIvano Di Meo, Cristina Colombelli, Balaji Srinivasan, et al.
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