about
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureEthylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approachesLoss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyC4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes.Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.Transcription Factor EB Controls Metabolic Flexibility during Exercise.AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.Classification and molecular pathogenesis of NBIA syndromes.Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathwaysSSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderHarmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration
P50
Q24622009-58EE7737-6686-4CD0-9A65-FC0B27DEC4D0Q28284454-492987D2-F5F0-4F52-92AE-631108802E9BQ28306500-B9325645-77E1-435C-AC27-22B2095E16F5Q36893729-9B840168-B20F-4AE5-B5D8-262AEED209CFQ37555498-460FD352-C4AC-4967-A253-041A445D9D6AQ37590472-C3C81D85-D166-4D3C-99F1-7FBE8E1D8C17Q38650384-C7897F8C-EE43-4FED-A253-607645E1C496Q39413079-8B38F0A7-7897-45D0-934E-1B907B98F52FQ40886181-7DDD2ED6-4B58-443E-A7C3-8334865D1766Q47218986-3C3B9E77-832A-45FC-8991-7637290F3D54Q48824607-3AAEFB45-75C6-4FB3-8617-08B43D757288Q50155068-A3B9D3E4-AA32-4C85-85A0-3B7BB7EEA745Q50419964-B9346A30-9960-4C5A-8945-AC158CF0A15AQ52431176-B456B896-9C78-4584-A68A-463DB26076CCQ59330377-8A3982BB-F776-4C7A-AF3F-9526BE3F13DAQ90255315-EFB5B933-C4FF-4F71-AF93-175DA5835F53Q95830939-A199C2E8-4406-4895-8F2F-1CF316188D61
P50
description
researcher ORCID ID = 0000-0002-4616-5623
@en
wetenschapper
@nl
name
Ivano Di Meo
@ast
Ivano Di Meo
@en
Ivano Di Meo
@es
Ivano Di Meo
@nl
type
label
Ivano Di Meo
@ast
Ivano Di Meo
@en
Ivano Di Meo
@es
Ivano Di Meo
@nl
prefLabel
Ivano Di Meo
@ast
Ivano Di Meo
@en
Ivano Di Meo
@es
Ivano Di Meo
@nl
P108
P106
P1153
24466154500
P31
P496
0000-0002-4616-5623