Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene

por AlSaman, Abdulaziz, Tomoum, Hoda, Invernizzi, Federica, Zeviani, Massimo
Publicado 2012

Health Status of Patients Who Underwent Liver Transplantation During the Coronavirus Outbreak at a Large Center in Milan, Italy

por Donato, Maria Francesca, Invernizzi, Federica, Lampertico, Pietro, Rossi, Giorgio
Publicado 2020

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

por Ardissone, Anna, Invernizzi, Federica, Nasca, Alessia, Moroni, Isabella, Farina, Laura, Ghezzi, Daniele
Publicado 2015

Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm

por Danti, Federica Rachele, Invernizzi, Federica, Moroni, Isabella, Garavaglia, Barbara, Nardocci, Nardo, Zorzi, Giovanna
Publicado 2021

COVID-19 Vaccine Acceptance among Liver Transplant Recipients

por Costantino, Andrea, Invernizzi, Federica, Centorrino, Erica, Vecchi, Maurizio, Lampertico, Pietro, Donato, Maria Francesca
Publicado 2021

Decade of optimizing therapy with direct-acting antiviral drugs and the changing profile of patients with chronic hepatitis C

por Brzdęk, Michał, Zarębska-Michaluk, Dorota, Invernizzi, Federica, Cilla, Marta, Dobrowolska, Krystyna, Flisiak, Robert
Publicado 2023

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

por Invernizzi, Federica, Ardissone, Anna, Lamantea, Eleonora, Garavaglia, Barbara, Zeviani, Massimo, Farina, Laura, Ghezzi, Daniele, Moroni, Isabella
Publicado 2014

Two Cases of TMEM151A ‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients

por Satolli, Sara, Invernizzi, Federica, Danti, Federica Rachele, Reale, Chiara, Panteghini, Celeste, Nardocci, Nardo, Garavaglia, Barbara, Zorzi, Giovanna
Publicado 2023

A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

por Invernizzi, Federica, Tigano, Marco, Dallabona, Cristina, Donnini, Claudia, Ferrero, Ileana, Cremonte, Maurizio, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Publicado 2013

Gender and Autoimmune Liver Diseases: Relevant Aspects in Clinical Practice

por Invernizzi, Federica, Cilla, Marta, Trapani, Silvia, Guarino, Maria, Cossiga, Valentina, Gambato, Martina, Morelli, Maria Cristina, Morisco, Filomena, Burra, Patrizia, Floreani, Annarosa
Publicado 2022

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

por Lamperti, Costanza, Fang, Mingyan, Invernizzi, Federica, Liu, Xuanzhu, Wang, Hairong, Zhang, Qing, Carrara, Franco, Moroni, Isabella, Zeviani, Massimo, Zhang, Jianguo, Ghezzi, Daniele
Publicado 2012

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

por Invernizzi, Federica, Legati, Andrea, Nasca, Alessia, Lamantea, Eleonora, Garavaglia, Barbara, Gusic, Mirjana, Kopajtich, Robert, Prokisch, Holger, Zeviani, Massimo, Lamperti, Costanza, Ghezzi, Daniele
Publicado 2021

Influence of sex in alcohol‐related liver disease: Pre‐clinical and clinical settings

por Bizzaro, Debora, Becchetti, Chiara, Trapani, Silvia, Lavezzo, Bruna, Zanetto, Alberto, D'Arcangelo, Francesca, Merli, Manuela, Lapenna, Lucia, Invernizzi, Federica, Taliani, Gloria, Burra, Patrizia
Publicado 2023

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

por Onesto, Elisa, Colombrita, Claudia, Gumina, Valentina, Borghi, Maria Orietta, Dusi, Sabrina, Doretti, Alberto, Fagiolari, Gigliola, Invernizzi, Federica, Moggio, Maurizio, Tiranti, Valeria, Silani, Vincenzo, Ratti, Antonia
Publicado 2016

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

por Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Publicado 2021

Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease

por Devigili, Grazia, Straccia, Giulia, Cereda, Emanuele, Garavaglia, Barbara, Fedeli, Alessandro, Elia, Antonio Emanuele, Piacentini, Sylvie Hélène Marie Jeanne, Prioni, Sara, Amami, Paolo, Invernizzi, Federica, Andreasi, Nico Golfrè, Romito, Luigi Michele, Eleopra, Roberto, Cilia, Roberto
Publicado 2023

COVID-19 in liver transplant recipients: preliminary data from the ELITA/ELTR registry

por Belli, Luca S, Duvoux, Christophe, Karam, Vincent, Adam, Rene, Cuervas-Mons, Valentin, Pasulo, Luisa, Loinaz, Carmelo, Invernizzi, Federica, Patrono, Damiano, Bhoori, Sherrie, Ciccarelli, Olga, Morelli, Maria Cristina, Castells, Lluis, Lopez-Lopez, Victor, Conti, Sara, Fondevila, Costantino, Polak, Wojchiech
Publicado 2020

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

por Invernizzi, Federica, Izzo, Rossella, Colangelo, Isabel, Legati, Andrea, Zanetti, Nadia, Garavaglia, Barbara, Lamantea, Eleonora, Peverelli, Lorenzo, Ardissone, Anna, Moroni, Isabella, Maggi, Lorenzo, Bonanno, Silvia, Fiori, Laura, Velardo, Daniele, Magri, Francesca, Comi, Giacomo P., Ronchi, Dario, Ghezzi, Daniele, Lamperti, Costanza
Publicado 2023

Variants in ATP5F1B are associated with dominantly inherited dystonia

por Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele
Publicado 2023

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

por Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W, Melchionda, Laura, Blakely, Emma L, Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P, Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M, Haack, Tobias B, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2013