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Author/Creator Monfrini, Edoardo

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
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2. A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. Issue 4 (2nd February 2021)

Authors:
Monfrini, Edoardo; Cogiamanian, Filippo; Salani, Sabrina; Straniero, Letizia; Fagiolari, Gigliola; Garbellini, Manuela; Carsana, Emma; Borellini, Linda; Biella, Fabio; Moggio, Maurizio; Bresolin, Nereo; Corti, Stefania; Duga, Stefano; Comi, Giacomo P.; Aureli, Massimo; Di Fonzo, Alessio
Journal:
Annals of neurology
Issue:
Volume 89:Issue 4(2021)
Page Start:
834
Record Type:
Journal Article
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4. Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation. (March 2023)

Authors:
Argenziano, Giacomo; Cavallieri, Francesco; Monfrini, Edoardo; Gessani, Annalisa; Russo, Marco; Rizzi, Romana; Fioravanti, Valentina; Grisanti, Sara; Toschi, Giulia; Napoli, Manuela; Pascarella, Rosario; Budriesi, Carla; Di Fonzo, Alessio; Zucco, Riccardo; Valzania, Franco
Journal:
Parkinsonism & related disorders
Issue:
Volume 108(2023)
Page Start:
Record Type:
Journal Article
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5. 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
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6. 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
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7. 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
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8. GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort. Issue 11 (13th July 2020)

Authors:
Petrucci, Simona; Ginevrino, Monia; Trezzi, Ilaria; Monfrini, Edoardo; Ricciardi, Lucia; Albanese, Alberto; Avenali, Micol; Barone, Paolo; Bentivoglio, Anna Rita; Bonifati, Vincenzo; Bove, Francesco; Bonanni, Laura; Brusa, Livia; Cereda, Cristina; Cossu, Giovanni; Criscuolo, Chiara; Dati, Giovann...
Other Names:
Altavista Maria Concetta investigator.; Amboni Marianna investigator.; Ardolino Gianluca investigator.; Berardelli Alfredo investigator.; Cogiamanian Filippo investigator.; Colosimo Carlo investigator.; Costanti Danilo investigator.; De Michele Giuseppe investigator.; Bonaventura Carlo Di investi...
Journal:
Movement disorders
Issue:
Volume 35:Issue 11(2020)
Page Start:
2106
Record Type:
Journal Article
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10. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020)

Authors:
Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
15
Record Type:
Journal Article
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