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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Published in:
Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544
By:
- Di Bella, Daniela;
- Lazzaro, Federico;
- Brusco, Alfredo;
- Plumari, Massimo;
- Battaglia, Giorgio;
- Pastore, Annalisa;
- Finardi, Adele;
- Cagnoli, Claudia;
- Tempia, Filippo;
- Frontali, Marina;
- Veneziano, Liana;
- Sacco, Tiziana;
- Boda, Enrica;
- Brussino, Alessandro;
- Bonn, Florian;
- Castellotti, Barbara;
- Baratta, Silvia;
- Mariotti, Caterina;
- Gellera, Cinzia;
- Fracasso, Valentina
Publication type:
Article
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Published in:
2022
By:
- Nanetti, Lorenzo;
- Di Bella, Daniela;
- Magri, Stefania;
- Fichera, Mario;
- Sarto, Elisa;
- Castaldo, Anna;
- Mongelli, Alessia;
- Baratta, Silvia;
- Fenu, Silvia;
- Moscatelli, Marco;
- Bonati, Maria Teresa;
- Martinuzzi, Andrea;
- Mariotti, Caterina;
- Taroni, Franco
Publication type:
Case Study
Tattoo-Associated Skin Reaction in a Melanoma Patient Receiving B-RAF and MEK Inhibitors: A Case Report with an Emphasis on Etiopathogenic and Histological Features.
Published in:
2024
By:
- Baratta, Silvia;
- Cazzato, Gerardo;
- Foti, Caterina;
- Ingravallo, Giuseppe;
- Lospalluti, Lucia;
- Laface, Carmelo;
- Filotico, Raffaele;
- Ambrogio, Francesca
Publication type:
Case Study
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Published in:
2020
By:
- 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, Maria L.;
- Maresca, Alessandra;
- Capristo, Mariantonietta;
- Ardissone, Anna;
- Pareyson, Davide
Publication type:
journal article
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Published in:
European Journal of Neurology, 2021, v. 28, n. 3, p. 934, doi. 10.1111/ene.14646
By:
- Di Bella, Daniela;
- Magri, Stefania;
- Benzoni, Chiara;
- Farina, Laura;
- Maccagnano, Carmelo;
- Sarto, Elisa;
- Moscatelli, Marco;
- Baratta, Silvia;
- Ciano, Claudia;
- Piacentini, Sylvie H. M. J.;
- Draghi, Lara;
- Mauro, Elena;
- Pareyson, Davide;
- Gellera, Cinzia;
- Taroni, Franco;
- Salsano, Ettore
Publication type:
Article
Cost analysis in the management of moderate-to-severe psoriasis: comparison between conventional and biological systemic therapies.
Published in:
Dermatology Reports, 2024, v. 16, n. 1, p. 49, doi. 10.4081/dr.2023.9755
By:
- Mortato, Edoardo;
- Baratta, Silvia;
- Rubino, Luca;
- De Caro, Anna Paola;
- Loconsole, Francesco
Publication type:
Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Published in:
Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
By:
- Iacobazzi, Vito;
- Invernizzi, Federica;
- Baratta, Silvia;
- Pons, Roser;
- Chung, Wendy;
- Garavaglia, Barbara;
- Dionisi-Vici, Carlo;
- Ribes, Antonia;
- Parini, Rossella;
- Huertas, Maria Dolores;
- Roldan, Susana;
- Lauria, Graziantonio;
- Palmieri, Ferdinando;
- Taroni, Franco
Publication type:
Article
Expanding the phenotypic spectrum of TRIM2‐associated Charcot‐Marie‐Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 429, doi. 10.1111/jns.12410
By:
- Magri, Stefania;
- Danti, Federica Rachele;
- Balistreri, Francesca;
- Baratta, Silvia;
- Ciano, Claudia;
- Pagliano, Emanuela;
- Taroni, Franco;
- Moroni, Isabella
Publication type:
Article

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