1. A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus. Issue 3 (1st February 2019) Authors: Lamquet, Simon; Ramos, Eliana M.; Legati, Andrea; Coppola, Giovanni; Hemelsoet, Dimitri; Vanakker, Olivier M. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 605 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. Issue 12 (27th October 2017) Authors: Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (26th May 2015) Authors: Ardissone, Anna; Piscosquito, Giuseppe; Legati, Andrea; Langella, Tiziana; Lamantea, Eleonora; Garavaglia, Barbara; Salsano, Ettore; Farina, Laura; Moroni, Isabella; Pareyson, Davide; Ghezzi, Daniele Journal: Neurology Issue: Volume 84:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. Issue 1 (21st April 2020) Authors: Caporali, Leonardo; Magri, Stefania; Legati, Andrea; Del Dotto, Valentina; Tagliavini, Francesca; Balistreri, Francesca; Nasca, Alessia; La Morgia, Chiara; Carbonelli, Michele; Valentino, Maria L.; Lamantea, Eleonora; Baratta, Silvia; Schöls, Ludger; Schüle, Rebecca; Barboni, Piero; Cascavilla, M... Journal: Annals of neurology Issue: Volume 88:Issue 1(2020) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered Platform (Adv. Healthcare Mater. 10/2022). Issue 10 (18th May 2022) Authors: Hagemann, Cathleen; Moreno Gonzalez, Carmen; Guetta, Ludovica; Tyzack, Giulia; Chiappini, Ciro; Legati, Andrea; Patani, Rickie; Serio, Andrea Journal: Advanced healthcare materials Issue: Volume 11:Issue 10(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered Platform. Issue 10 (18th February 2022) Authors: Hagemann, Cathleen; Moreno Gonzalez, Carmen; Guetta, Ludovica; Tyzack, Giulia; Chiappini, Ciro; Legati, Andrea; Patani, Rickie; Serio, Andrea Journal: Advanced healthcare materials Issue: Volume 11:Issue 10(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Issue 9 (11th July 2016) Authors: Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I. Issue 11 (24th September 2020) Authors: Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezz... Journal: EMBO molecular medicine Issue: Volume 12:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Issue 7 (30th June 2015) Authors: Nicolas, Gaël; Charbonnier, Camille; de Lemos, Roberta Rodrigues; Richard, Anne‐Claire; Guillin, Olivier; Wallon, David; Legati, Andrea; Geschwind, Daniel; Coppola, Giovanni; Frebourg, Thierry; Campion, Dominique; de Oliveira, João Ricardo Mendes; Hannequin, Didier Journal: American journal of medical genetics Issue: Volume 168:Issue 7(2015) Page Start: 586 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Brain calcifications and PCDH12 variants. (August 2017) Authors: Nicolas, Gaël; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R.; Ferreira, Joana; Moura, Denis; Sobrido, Maria J.; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-François; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Dani... Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗