Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae von Caron-Godon, Chenelle A, Della Vecchia, Stefania, Romano, Alessandro, Doccini, Stefano, Dal Canto, Flavio, Pasquariello, Rosa, Rubegni, Anna, Battini, Roberta, Santorelli, Filippo Maria, Glerum, D Moira, Nesti, Claudia

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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases von 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

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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review von Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria

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NGS in Hereditary Ataxia: When Rare Becomes Frequent von Galatolo, Daniele, De Michele, Giovanna, Silvestri, Gabriella, Leuzzi, Vincenzo, Casali, Carlo, Musumeci, Olimpia, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Caputi, Caterina, Cioffi, Ettore, De Michele, Giuseppe, Dotti, Maria Teresa, Fico, Tommasina, Fiorillo, Chiara, Galosi, Serena, Lieto, Maria, Malandrini, Alessandro, Melone, Marina A. B., Mignarri, Andrea, Natale, Gemma, Pegoraro, Elena, Petrucci, Antonio, Ricca, Ivana, Riso, Vittorio, Rossi, Salvatore, Rubegni, Anna, Scarlatti, Arianna, Tinelli, Francesca, Trovato, Rosanna, Tedeschi, Gioacchino, Tessa, Alessandra, Filla, Alessandro, Santorelli, Filippo Maria

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Congenital myopathies: clinical phenotypes and new diagnostic tools von Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M

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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing von Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E, Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M, Battini, Roberta

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Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family von Leonardi, Luca, Ziccardi, Lucia, Marcotulli, Christian, Rubegni, Anna, Longobardi, Antonino, Serrao, Mariano, Storti, Eugenia, Pierelli, Francesco, Tessa, Alessandra, Parisi, Vincenzo, Santorelli, Filippo M., Carlo, Casali

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Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders von Baldacci, Jacopo, Calderisi, Marco, Fiorillo, Chiara, Santorelli, Filippo Maria, Rubegni, Anna

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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD) von Aguti, Sara, Gallus, Gian Nicola, Bianchi, Silvia, Salvatore, Simona, Rubegni, Anna, Berti, Gianna, Formichi, Patrizia, De Stefano, Nicola, Malandrini, Alessandro, Lopergolo, Diego

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Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review von Mari, Francesco, Berti, Beatrice, Romano, Alessandro, Baldacci, Jacopo, Rizzi, Riccardo, Grazia Alessandrì, M., Tessa, Alessandra, Procopio, Elena, Rubegni, Anna, Lourenḉo, Charles Marques, Simonati, Alessandro, Guerrini, Renzo, Santorelli, Filippo Maria

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Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome von De Michele, Giovanna, Sorrentino, Pierpaolo, Nesti, Claudia, Rubegni, Anna, Ruggiero, Lucia, Peluso, Silvio, Antenora, Antonella, Quarantelli, Mario, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M

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Expanding the clinical and genetic heterogeneity of SPAX5 von Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.

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The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine von Pellacani, Simona, Sicca, Federico, Di Lorenzo, Cherubino, Grieco, Gaetano S, Valvo, Giulia, Cereda, Cristina, Rubegni, Anna, Santorelli, Filippo M

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Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease von Serpieri, Valentina, Biagini, Tommaso, Mazzotta, Concetta, Pasquariello, Rosa, Rubegni, Anna, Santorelli, Filippo, Ongari, Gerardo, Cerri, Silvia, Mazza, Tommaso, Battini, Roberta, Valente, Enza Maria

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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52 von D’Amore, Angelica, Tessa, Alessandra, Naef, Valentina, Bassi, Maria Teresa, Citterio, Andrea, Romaniello, Romina, Fichi, Gianluca, Galatolo, Daniele, Mero, Serena, Battini, Roberta, Bertocci, Giulia, Baldacci, Jacopo, Sicca, Federico, Gemignani, Federica, Ricca, Ivana, Rubegni, Anna, Hirst, Jennifer, Marchese, Maria, Sahin, Mustafa, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.

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Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort von Fattori, Fabiana, Maggi, Lorenzo, Bruno, Claudio, Cassandrini, Denise, Codemo, Valentina, Catteruccia, Michela, Tasca, Giorgio, Berardinelli, Angela, Magri, Francesca, Pane, Marika, Rubegni, Anna, Santoro, Lucio, Ruggiero, Lucia, Fiorini, Patrizio, Pini, Antonella, Mongini, Tiziana, Messina, Sonia, Brisca, Giacomo, Colombo, Irene, Astrea, Guja, Fiorillo, Chiara, Bragato, Cinzia, Moroni, Isabella, Pegoraro, Elena, D’Apice, Maria Rosaria, Alfei, Enrico, Mora, Marina, Morandi, Lucia, Donati, Alice, Evilä, Anni, Vihola, Anna, Udd, Bjarne, Bernansconi, Pia, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico, D’Amico, Adele

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MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach von Rosa, Gian Marco, Montecucco, Fabrizio, Valbusa, Alberto, Budaj, Irilda, Galletto Pregliasco, Athena, Boccalini, Sara, Castiglione Morelli, Margherita, Nesti, Claudia, Rubegni, Anna, Massobrio, Laura, Seitun, Sara, Deferrari, Luca

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Novel biomarkers for limb girdle muscular dystrophy (LGMD) (P1-1.Virtual) von Lopergolo, Diego, Gallus, Gian Nicola, Aguti, Sara, Bianchi, Silvia, Salvatore, Simona, Rubegni, Anna, Berti, Gianna, Formichi, Patrizia, Malandrini, Alessandro

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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome von Nesti, Claudia, Ticci, Chiara, Rubegni, Anna, Doccini, Stefano, Scaturro, Giusi, Vetro, Annalisa, Guerrini, Renzo, Santorelli, Filippo M., Procopio, Elena

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Novel ICOX11/I Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and ISaccharomyces cerevisiae/I von Caron-Godon, Chenelle A, Della Vecchia, Stefania, Romano, Alessandro, Doccini, Stefano, Dal Canto, Flavio, Pasquariello, Rosa, Rubegni, Anna, Battini, Roberta, Santorelli, Filippo Maria, Glerum, D. Moira, Nesti, Claudia

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