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Author/Creator Bordoni, Andreina

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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3. 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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4. Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation. Issue 7 (22nd July 2015)

Authors:
Colombo, Irene; Pagliarani, Serena; Testolin, Silvia; Cinnante, Claudia Maria; Fagiolari, Gigliola; Ciscato, Patrizia; Bordoni, Andreina; Fortunato, Francesco; Magri, Francesca; Previtali, Stefano Carlo; Velardo, Daniele; Sciacco, Monica; Comi, Giacomo Pietro; Moggio, Maurizio
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 87:Issue 7(2016)
Page Start:
797
Record Type:
Journal Article
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5. Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome. (5th December 2019)

Authors:
Bitetto, Giacomo; Ronchi, Dario; Bonato, Sara; Pittaro, Alessandra; Compagnoni, Giacomo Monzio; Bordoni, Andreina; Salani, Sabrina; Frattini, Emanuele; Lopez, Gianluca; Cribiù, Fulvia Milena; Corti, Stefania; Comi, Giacomo P; Bresolin, Nereo; Di Fonzo, Alessio
Journal:
Human molecular genetics
Issue:
Volume 28:Number 23(2019)
Page Start:
3921
Record Type:
Journal Article
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6. Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. Issue 9 (24th July 2018)

Authors:
Ripolone, Michela; Lucchini, Valeria; Ronchi, Dario; Fagiolari, Gigliola; Bordoni, Andreina; Fortunato, Francesco; Mondello, Stefania; Bonato, Sara; Meregalli, Mirella; Torrente, Yvan; Corti, Stefania; Comi, Giacomo P.; Moggio, Maurizio; Sciacco, Monica
Journal:
Journal of neuroscience research
Issue:
Volume 96:Issue 9(2018)
Page Start:
1576
Record Type:
Journal Article
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7. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. Issue 2 (14th December 2012)

Authors:
Ciccolella, Marianna; Corti, Stefania; Catteruccia, Michela; Petrini, Stefania; Tozzi, Giulia; Rizza, Teresa; Carrozzo, Rosalba; Nizzardo, Monica; Bordoni, Andreina; Ronchi, Dario; D'Amico, Adele; Rizzo, Cristiano; Comi, Giacomo Pietro; Bertini, Enrico
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 2(2013)
Page Start:
104
Record Type:
Journal Article
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