Resultados de búsqueda - Legati, Andrea

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

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Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders por Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

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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.

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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

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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

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Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature por Ardissone, Anna, Granata, Tiziana, Legati, Andrea, Diodato, Daria, Melchionda, Laura, Lamantea, Eleonora, Garavaglia, Barbara, Ghezzi, Daniele, Moroni, Isabella

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Familial Behavioral Variant Frontotemporal Dementia Associated With Astrocyte-Predominant Tauopathy por Ferrer, Isidre, Legati, Andrea, García-Monco, J. Carlos, Gomez-Beldarrain, Marian, Carmona, Margarita, Blanco, Rosa, Seeley, William W., Coppola, Giovanni

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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders por Ardissone, Anna, Piscosquito, Giuseppe, Legati, Andrea, Langella, Tiziana, Lamantea, Eleonora, Garavaglia, Barbara, Salsano, Ettore, Farina, Laura, Moroni, Isabella, Pareyson, Davide, Ghezzi, Daniele

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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

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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

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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

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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

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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

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Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy por Fong, Jamie C., Rojas, Julio C., Bang, Jee, Legati, Andrea, Rankin, Katherine P., Forner, Sven, Miller, Zachary A., Karydas, Anna M., Coppola, Giovanni, Grouse, Carrie K., Ralph, Jeffrey, Miller, Bruce L., Geschwind, Michael D.

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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

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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

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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

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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.

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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

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Primary brain calcification: an international study reporting novel variants and associated phenotypes por Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H., Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L., Innes, A Micheil, Ross, Alison, Dobyns, William B., Alcantara, Diana, O’Driscoll, Mark, Hannequin, Didier, Campion, Dominique, Oliveira, João R., Garavaglia, Barbara, Coppola, Giovanni, Nicolas, Gaël

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