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. Expanding the genotypic and phenotypic spectrum of Beta‐propeller potein‐associated neurodegeneration. (30th December 2020) Authors: Monfrini, Edoardo; Tocco, Pierluigi; Bonato, Sara; Tosi, Mattia; Melzi, Valentina; Frattini, Emanuele; Franco, Giulia; Corti, Stefania; Comi, Giacomo Pietro; Bresolin, Nereo; Di Fonzo, Alessio Journal: European journal of neurology Issue: Volume 28:Number 3(2021) Page Start: e25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the genotypic and phenotypic spectrum of Beta‐propeller protein‐associated neurodegeneration. (30th December 2020) Authors: Monfrini, Edoardo; Tocco, Pierluigi; Bonato, Sara; Tosi, Mattia; Melzi, Valentina; Frattini, Emanuele; Franco, Giulia; Corti, Stefania; Comi, Giacomo Pietro; Bresolin, Nereo; Di Fonzo, Alessio Journal: European journal of neurology Issue: Volume 28:Number 3(2021) Page Start: e25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. LRRK2 and GBA mutation analysis in a cohort of Italian familial and sporadic PD. (January 2016) Authors: Trezzi, Ilaria; Melzi, Valentina; Franco, Giulia; Borellini, Linda; Monfrini, Edoardo; Bresolin, Nereo; Comi, Giacomo Pietro; Di Fonzo, Alessio Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 2 Page Start: e167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired. Issue 8 (27th January 2022) Authors: Taiana, Michela; Govoni, Alessandra; Salani, Sabrina; Kleinschmidt, Nicole; Galli, Noemi; Saladini, Matteo; Ghezzi, Stefano Bruno; Melzi, Valentina; Bersani, Margherita; Del Bo, Roberto; Muehlemann, Oliver; Bertini, Enrico; Sansone, Valeria; Albamonte, Emilio; Messina, Sonia; Mari, Francesco; Ces... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 8(2022) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease. (June 2017) Authors: Buongarzone, Gabriele; Monfrini, Edoardo; Franco, Giulia; Trezzi, Ilaria; Borellini, Linda; Frattini, Emanuele; Melzi, Valentina; Di Caprio, Anna Chiara; Ronchi, Dario; Monzio Compagnoni, Giacomo; Cogiamanian, Filippo; Ardolino, Gianluca; Bresolin, Nereo; Comi, Giacomo P.; Corti, Stefania; Di Fon... Journal: Parkinsonism & related disorders Issue: Volume 39(2017) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗