1. Classification and molecular pathogenesis of NBIA syndromes. (March 2018) Authors: Di Meo, Ivano; Tiranti, Valeria Journal: European journal of paediatric neurology Issue: Volume 22:Number 2(2018:Mar.) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. Issue 1 (17th November 2016) Authors: Ziosi, Marcello; Di Meo, Ivano; Kleiner, Giulio; Gao, Xing‐Huang; Barca, Emanuele; Sanchez‐Quintero, Maria J; Tadesse, Saba; Jiang, Hongfeng; Qiao, Changhong; Rodenburg, Richard J; Scalais, Emmanuel; Schuelke, Markus; Willard, Belinda; Hatzoglou, Maria; Tiranti, Valeria; Quinzii, Catarina M Journal: EMBO molecular medicine Issue: Volume 9:Issue 1(2017) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways. (December 2018) Authors: Podrini, Christine; Rowe, Isaline; Pagliarini, Roberto; Costa, Ana; Chiaravalli, Marco; Di Meo, Ivano; Kim, Hyunho; Distefano, Gianfranco; Tiranti, Valeria; Qian, Feng; di Bernardo, Diego; Frezza, Christian; Boletta, Alessandra Journal: Communications biology Issue: Volume 1:Number 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions. Issue 10 (22nd July 2020) Authors: Marchet, Silvia; Legati, Andrea; Nasca, Alessia; Di Meo, Ivano; Spagnolo, Manuela; Zanetti, Nadia; Lamantea, Eleonora; Catania, Alessia; Lamperti, Costanza; Ghezzi, Daniele Journal: Human mutation Issue: Volume 41:Issue 10(2020) Page Start: 1745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inborn errors of coenzyme A metabolism and neurodegeneration. Issue 1 (11th February 2019) Authors: Di Meo, Ivano; Carecchio, Miryam; Tiranti, Valeria Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches. Issue 10 (20th July 2015) Authors: Di Meo, Ivano; Lamperti, Costanza; Tiranti, Valeria Journal: EMBO molecular medicine Issue: Volume 7:Issue 10(2015:Oct.) Page Start: 1257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications. Issue 4 (25th July 2013) Authors: Hildebrandt, Tatjana M.; Di Meo, Ivano; Zeviani, Massimo; Viscomi, Carlo; Braun, Hans-Peter Journal: Bioscience reports Issue: Volume 33:Issue 4(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗