PM445. A family of primary familial brain calcification due to mutation in platelet-derived growth factor-B gene

por Hayashi, Teruo, Coppola, Giovanni, Legati, Andrea, Nishikawa, Tadashi
Publicado 2016

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

por Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol
Publicado 2021

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

por Lamquet, Simon, Ramos, Eliana M., Legati, Andrea, Coppola, Giovanni, Hemelsoet, Dimitri, Vanakker, Olivier M.
Publicado 2019

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

por Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele
Publicado 2023

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

por Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele
Publicado 2016

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

por Nasca, Alessia, Nardecchia, Francesca, Commone, Anna, Semeraro, Michela, Legati, Andrea, Garavaglia, Barbara, Ghezzi, Daniele, Leuzzi, Vincenzo
Publicado 2018

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

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

por Nasca, Alessia, Legati, Andrea, Meneri, Megi, Ermert, Melisa Emel, Frascarelli, Chiara, Zanetti, Nadia, Garbellini, Manuela, Comi, Giacomo Pietro, Catania, Alessia, Lamperti, Costanza, Ronchi, Dario, Ghezzi, Daniele
Publicado 2022

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

por Legati, Andrea, Reyes, Aurelio, Ceccatelli Berti, Camilla, Stehling, Oliver, Marchet, Silvia, Lamperti, Costanza, Ferrari, Alberto, Robinson, Alan J, Mühlenhoff, Ulrich, Lill, Roland, Zeviani, Massimo, Goffrini, Paola, Ghezzi, Daniele
Publicado 2017

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

por Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele
Publicado 2018

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

por Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2018

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

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

por Moreno, Fermin, Rabinovici, Gil D, Karydas, Anna, Miller, Zachary, Hsu, Sandy Chan, Legati, Andrea, Fong, Jamie, Schonhaut, Daniel, Esselmann, Hermann, Watson, Christa, Stephens, Melanie L, Kramer, Joel, Wiltfang, Jens, Seeley, William W, Miller, Bruce L, Coppola, Giovanni, Grinberg, Lea Tenenholz
Publicado 2015

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

por Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Publicado 2020

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

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

por Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele
Publicado 2017

Brain calcifications and PCDH12 variants

por Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R., Ferreira, Joana, Moura, Denis, Sobrido, Maria J., Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H., Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W., Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R.M.
Publicado 2017

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

por 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, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco
Publicado 2020

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

por Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C., Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S., Simpson, Sheila A., Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K., Vanakker, Olivier, Wessels, Marja W., Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H., Battini, Jean-Luc, Coppola, Giovanni
Publicado 2015