תוצאות חיפוש - Legati, Andrea

PM445. A family of primary familial brain calcification due to mutation in platelet-derived growth factor-B gene מאת Hayashi, Teruo, Coppola, Giovanni, Legati, Andrea, Nishikawa, Tadashi

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

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