1. A de novo C19orf12 heterozygous mutation in a patient with MPAN. (March 2018) Authors: Monfrini, Edoardo; Melzi, Valentina; Buongarzone, Gabriele; Franco, Giulia; Ronchi, Dario; Dilena, Robertino; Scola, Elisa; Vizziello, Paola; Bordoni, Andreina; Bresolin, Nereo; Comi, Giacomo Pietro; Corti, Stefania; Di Fonzo, Alessio Journal: Parkinsonism & related disorders Issue: Volume 48(2018) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis. Issue 11 (25th October 2022) Authors: Manini, Arianna; Gagliardi, Delia; Meneri, Megi; Antognozzi, Sara; Del Bo, Roberto; Scaglione, Cesa; Comi, Giacomo Pietro; Corti, Stefania; Ronchi, Dario Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 11(2022) Page Start: 1820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis. Issue 7 (July 2016) Authors: Protti, Alessandro; Ronchi, Dario; Bassi, Gabriele; Fortunato, Francesco; Bordoni, Andreina; Rizzuti, Tommaso; Fumagalli, Roberto Journal: Critical care medicine Issue: Volume 44:Issue 7(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (9th January 2015) Authors: Ronchi, Dario; Riboldi, Giulietta; Del Bo, Roberto; Ticozzi, Nicola; Scarlato, Marina; Galimberti, Daniela; Corti, Stefania; Silani, Vincenzo; Bresolin, Nereo; Comi, Giacomo Pietro Journal: Brain Issue: Volume 138:Part 8(2015:Aug.) Page Start: e372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry. Issue 7 (July 2016) Authors: Bersano, Anna; Markus, Hugh Stephen; Quaglini, Silvana; Arbustini, Eloisa; Lanfranconi, Silvia; Micieli, Giuseppe; Boncoraglio, Giorgio B.; Taroni, Franco; Gellera, Cinzia; Baratta, Silvia; Penco, Silvana; Mosca, Lorena; Grasso, Maurizia; Carrera, Paola; Ferrari, Maurizio; Cereda, Cristina; Griec... Journal: Stroke Issue: Volume 47:Issue 7(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency. Issue 5 (24th April 2020) Authors: Ronchi, Dario; Monfrini, Edoardo; Bonato, Sara; Mancinelli, Veronica; Cinnante, Claudia; Salani, Sabrina; Bordoni, Andreina; Ciscato, Patrizia; Fortunato, Francesco; Villa, Marianna; Di Fonzo, Alessio; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo P. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 5(2020) Page Start: 839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene. (October 2020) Authors: Brusa, Roberta; Mauri, Eleonora; Dell'Arti, Laura; Magri, Francesca; Ronchi, Dario; Minorini, Valeria; Mainetti, Claudia; Gagliardi, Delia; Faravelli, Irene; Meneri, Megi; Bresolin, Nereo; Viola, Francesco; Corti, Stefania; Comi, Giacomo Pietro Journal: Neurology Issue: Volume 6:Number 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation. (6th August 2022) Authors: Manini, Arianna; Velardo, Daniele; Ciscato, Patrizia; Cinnante, Claudia; Moggio, Maurizio; Comi, Giacomo; Corti, Stefania; Ronchi, Dario Journal: Neurology Issue: Volume 8:Number 4(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family. (16th February 2022) Authors: Gagliardi, Delia; Ahmadinejad, Minoo; Del Bo, Roberto; Meneri, Megi; Comi, Giacomo Pietro; Corti, Stefania; Ronchi, Dario Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗