1. A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy. Issue 6 (10th March 2021) Authors: Palombo, Flavia; Piccolo, Benedetta; Saccani, Elena; Fiorini, Claudio; Capristo, Mariantonietta; Caporali, Leonardo; Pisani, Francesco; Carelli, Valerio Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel in‐Frame 18‐bp Microdeletion in MT‐CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance. Issue 8 (28th June 2014) Authors: Carossa, Valeria; Ghelli, Anna; Tropeano, Concetta Valentina; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Caporali, Leonardo; La Morgia, Chiara; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Martinuzzi, Andrea; De Nardo, ... Journal: Human mutation Issue: Volume 35:Issue 8(2014:Aug.) Page Start: 954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia. (8th October 2022) Authors: Palombo, Flavia; La Morgia, Chiara; Fiorini, Claudio; Caporali, Leonardo; Valentino, Maria Lucia; Donadio, Vincenzo; Liguori, Rocco; Carelli, Valerio 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) ↗
4. Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs. (27th July 2021) Authors: Vasseneix, Caroline; Najjar, Raymond P.; Xu, Xinxing; Tang, Zhiqun; Loo, Jing Liang; Singhal, Shweta; Tow, Sharon; Milea, Leonard; Ting, Daniel Shu Wei; Liu, Yong; Wong, Tien Y.; Newman, Nancy J.; Biousse, Valerie; Milea, Dan; Gohier, Philippe; Miller, Neil; Padungkiatsagul, Tanyatuth; Poonyathal... Journal: Neurology Issue: Volume 97:Number 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Issue 5 (21st January 2021) Authors: Cameli, Cinzia; Viggiano, Marta; Rochat, Magali J.; Maresca, Alessandra; Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Magini, Pamela; Duardo, Renée C.; Ceroni, Fabiola; Scaduto, Maria C.; Posar, Annio; Seri, Marco; Carelli, Valerio; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena Journal: Journal of cellular and molecular medicine Issue: Volume 25:Issue 5(2021) Page Start: 2459 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. Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations. Issue 6 (5th May 2021) Authors: Gramegna, Laura L.; Evangelisti, Stefania; Di Vito, Lidia; La Morgia, Chiara; Maresca, Alessandra; Caporali, Leonardo; Amore, Giulia; Talozzi, Lia; Bianchini, Claudio; Testa, Claudia; Manners, David N.; Cortesi, Irene; Valentino, Maria L.; Liguori, Rocco; Carelli, Valerio; Tonon, Caterina; Lodi, ... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 6(2021) Page Start: 1200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cardiac sympathetic innervation is an unrecognized disease target in autosomal dominant optic atrophy. (31st December 2022) Authors: Ronfini, Marco; Prando, Valentina; Scalco, Arianna; Dokshokova, Lolita; Lazzeri, Erika; Costantini, Irene; Alán, Lukáš; Franzoso, Mauro; Pianca, Nicola; Incensi, Alex; Pavone, Francesco Saverio; La Morgia, Chiara; Liguori, Rocco; Scorrano, Luca; Donadio, Vincenzo; Sacconi, Leonardo; Carelli, Vale... Journal: Journal of molecular and cellular cardiology Issue: Volume 173(2022)Supplement Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder. Issue 1 (7th October 2021) Authors: La Morgia, Chiara; Romagnoli, Martina; Pizza, Fabio; Biscarini, Francesco; Filardi, Marco; Donadio, Vincenzo; Carbonelli, Michele; Amore, Giulia; Park, Jason C.; Tinazzi, Michele; Carelli, Valerio; Liguori, Rocco; Plazzi, Giuseppe; Antelmi, Elena Journal: Movement disorders Issue: Volume 37:Issue 1(2022) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Combined Optic Atrophy and Rod–Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype. Issue 3 (September 2021) Authors: Rajabian, Firuzeh; Manitto, Maria Pia; Palombo, Flavia; Caporali, Leonardo; Grazioli, Alessio; Starace, Vincenzo; Arrigo, Alessandro; Cascavilla, Maria Lucia; La Morgia, Chiara; Barboni, Piero; Bandello, Francesco; Carelli, Valerio; Battaglia Parodi, Maurizio Other Names: Avery Robert section editor.; Golnik Karl C. section editor.; Froment Caroline section editor.; Wang An-Gour section editor. Journal: Journal of neuro-ophthalmology Issue: Volume 41:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗