1. 3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy. (7th October 2022) Authors: Benzoni, Chiara; Magri, Stefania; Moscatelli, Marco; Fenu, Silvia; Caccia, Claudio; Taroni, Franco; Salsano, Ettore; Di Bella, Daniela Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy. (7th October 2022) Authors: Benzoni, Chiara; Magri, Stefania; Moscatelli, Marco; Fenu, Silvia; Caccia, Claudio; Taroni, Franco; Salsano, Ettore; Di Bella, Daniela Journal: Neurology Issue: Volume 8:Number 5(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs). Issue 1 (27th May 2019) Authors: Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M.; Leonard‐Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello‐Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães‐Costa, Raquel; Attarian, Sharham; Latour, Philippe; Sol... Journal: Annals of neurology Issue: Volume 86:Issue 1(2019) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel NDRG1 mutation in a non‐Romani patient with CMT4D/HMSN‐Lom. Issue 1 (March 2017) Authors: Piscosquito, Giuseppe; Magri, Stefania; Saveri, Paola; Milani, Micaela; Ciano, Claudia; Farina, Laura; Taroni, Franco; Pareyson, Davide Journal: Journal of the peripheral nervous system Issue: Volume 22:Issue 1(2017) Page Start: 47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. (April 2017) Authors: Ragona, Francesca; Castellotti, Barbara; Salis, Barbara; Magri, Stefania; DiFrancesco, Jacopo C.; Nardocci, Nardo; Franceschetti, Silvana; Gellera, Cinzia; Granata, Tiziana Journal: Seizure Issue: Volume 47(2017) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations. Issue 5 (4th May 2021) Authors: Abati, Elena; Magri, Stefania; Meneri, Megi; Manenti, Giulia; Velardo, Daniele; Balistreri, Francesca; Pisciotta, Chiara; Saveri, Paola; Bresolin, Nereo; Comi, Giacomo Pietro; Ronchi, Dario; Pareyson, Davide; Taroni, Franco; Corti, Stefania Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 5(2021) Page Start: 1158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020) Authors: Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation. Issue 12 (10th October 2018) Authors: Magri, Stefania; Fracasso, Valentina; Plumari, Massimo; Alfei, Enrico; Ghezzi, Daniele; Gellera, Cinzia; Rusmini, Paola; Poletti, Angelo; Di Bella, Daniela; Elia, Antonio E.; Pantaleoni, Chiara; Taroni, Franco Journal: Human mutation Issue: Volume 39:Issue 12(2018) Page Start: 2060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening. (23rd March 2022) Authors: Saveri, Paola; Magri, Stefania; Maderna, Emanuela; Balistreri, Francesca; Lombardi, Raffaella; Ciano, Claudia; Moda, Fabio; Garavaglia, Barbara; Reale, Chiara; Lauria Pinter, Giuseppe; Taroni, Franco; Pareyson, Davide; Pisciotta, Chiara Journal: European journal of neurology Issue: Volume 29:Number 7(2022) Page Start: 2056 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗