Výsledky vyhledávání - Ardissone, Anna

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene Autor Ardissone, Anna, Moroni, Isabella, Bernasconi, Pia, Brugnoni, Raffaella

Získat plný text Získat plný text

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations Autor Invernizzi, Federica, Ardissone, Anna, Lamantea, Eleonora, Garavaglia, Barbara, Zeviani, Massimo, Farina, Laura, Ghezzi, Daniele, Moroni, Isabella

Získat plný text Získat plný text Získat plný text

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy Autor Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK Autor Saredi, Simona, Cauley, Edmund S., Ruggieri, Alessandra, Spivey, Tyler M., Ardissone, Anna, Mora, Marina, Moroni, Isabella, Manzini, M. Chiara

Získat plný text Získat plný text Získat plný text

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy Autor Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina

Získat plný text Získat plný text Získat plný text

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency Autor Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo

Získat plný text Získat plný text Získat plný text

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature Autor Ardissone, Anna, Lamantea, Eleonora, Quartararo, Jade, Dallabona, Cristina, Carrara, Franco, Moroni, Isabella, Donnini, Claudia, Garavaglia, Barbara, Zeviani, Massimo, Uziel, Graziella

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration Autor Russo, Camilla, Ardissone, Anna, Freri, Elena, Gasperini, Serena, Moscatelli, Marco, Zorzi, Giovanna, Panteghini, Celeste, Castellotti, Barbara, Garavaglia, Barbara, Nardocci, Nardo, Chiapparini, Luisa

Získat plný text Získat plný text Získat plný text

Validation of the Italian version of the pediatric CMT quality of life outcome measure Autor Moroni, Isabella, Danti, Federica Rachele, Pareyson, Davide, Pagliano, Emanuela, Piscosquito, Giuseppe, Foscan, Maria, Marchi, Alessia, Ardissone, Anna, Genitrini, Silvia, Wu, Tong Tong, Shy, Michael E, Ramchandren, Sindhu

Získat plný text Získat plný text Získat plný text

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy Autor Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability Autor Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen

Získat plný text Získat plný text Získat plný text

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C Autor Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael

Získat plný text Získat plný text Získat plný text

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases Autor Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content Autor Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text