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Journal of Neurology|January 30, 2013
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?Ettore Salsano, Laura Farina, Costanza Lamperti, et al.
Journal of Child Neurology|July 28, 2009
Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformationGigliola Fagiolari, Anna Cappellini, Rachele Cagliani, et al.
Frontiers in Neurology|September 8, 2017
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation TherapyMattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, et al.
Frontiers in Pharmacology|August 28, 2020
Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 MiceDario Brunetti, Emanuela Bottani, Agnese Segala, et al.
Cell Metabolism|May 13, 2014
NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial diseaseRaffaele Cerutti, Eija Pirinen, Costanza Lamperti, 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.
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.
Cells|March 25, 2022
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA DeletionsAlessia Nasca, Andrea Legati, Megi Meneri, et al.
Nature Genetics|February 1, 2011
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesDaniele Ghezzi, Paola Arzuffi, Mauro Zordan, et al.
Journal of Neurology|June 15, 2006
Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjectsElisabetta D'Adda, Monica Sciacco, Maria Elisa Fruguglietti, et al.
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