A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis von Mignarri, Andrea, Gallus, Gian Nicola, Dotti, Maria Teresa, Federico, Antonio

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The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies von Verrips, Aad, Dotti, Maria Teresa, Mignarri, Andrea, Stelten, Bianca M. L., Verma, Sue, Federico, Antonio

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The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression von Mignarri, Andrea, Dotti, Maria Teresa, Federico, Antonio, De Stefano, Nicola, Battaglini, Marco, Grazzini, Irene, Galluzzi, Paolo, Monti, Lucia

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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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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations von De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.

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Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study von Stelten, Bianca M. L., Dotti, Maria Teresa, Verrips, Aad, Elibol, Bulent, Falik-Zaccai, Tzipora C., Hanman, Kate, Mignarri, Andrea, Sithole, Belina, Steiner, Robert D., Verma, Surabhi, Yahalom, Gilad, Zubarioglu, Tanyel, Mochel, Fanny, Federico, Antonio

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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia von Locci, Sara, Cardani, Rosanna, Brunori, Paola, Lucchiari, Sabrina, Comi, Giacomo P., Federico, Antonio, De Stefano, Nicola, Meola, Giovanni, Mignarri, Andrea

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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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Clinical Features and Outcome of the Guillain–Barre Syndrome: A Single-Center 11-Year Experience von Ginanneschi, Federica, Giannini, Fabio, Sicurelli, Francesco, Battisti, Carla, Capoccitti, Giorgio, Bartalini, Sabina, Mignarri, Andrea, Volpi, Nila, Cioncoloni, David, Franci, Laura, De Stefano, Nicola, Rossi, Alessandro

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Primary familial brain calcification: update on molecular genetics von Taglia, Ilaria, Bonifati, Vincenzo, Mignarri, Andrea, Dotti, Maria Teresa, Federico, Antonio

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Narcolepsy is a common phenotype in HSAN IE and ADCA-DN von MOGHADAM, Keivan Kaveh, PIZZA, Fabio, DONADIO, Vincenzo, PARCHI, Piero, CORNELIO, Ferdinando, INZITARI, Domenico, MIGNARRI, Andrea, CAPOCCHI, Giuseppe, DOTTI, Maria Teresa, WINKELMANN, Juliane, LING LIN, MIGNOT, Emmanuel, LA MORGIA, Chiara, CARELLI, Valerio, PLAZZI, Giuseppe, FRANCESCHINI, Christian, TONON, Caterina, LODI, Raffaele, BARBONI, Piero, SERI, Marco, FERRARI, Simona, LIGUORI, Rocco

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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review von Della Vecchia, Stefania, 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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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis von Degrassi, Irene, Amoruso, Chiara, Giordano, Giuseppe, Del Puppo, Marina, Mignarri, Andrea, Dotti, Maria Teresa, Naturale, Mauro, Nebbia, Gabriella

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Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism von Mignarri, Andrea, Malandrini, Alessandro, Del Puppo, Marina, Magni, Alessandro, Monti, Lucia, Ginanneschi, Federica, Tessa, Alessandra, Santorelli, Filippo Maria, Federico, Antonio, Dotti, Maria Teresa

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Primary familial brain calcification with mild phenotype due to a new PDGFB mutation von Locci, Sara, Bianchi, Silvia, De Stefano, Nicola, Mignarri, Andrea

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Oculomotor features in SCA27B patients von Lopergolo, Diego, Bargagli, Alessia, Satolli, Sara, Barghigiani, Melissa, Mignarri, Andrea, Musumeci, Olimpia, Maria Santorelli, Filippo, Rufa, Alessandra

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24S-Hydroxycholesterol and Cerebellar Degeneration: Insights from SCA2 von Locci, Sara, Nidiaci, Valentina, De Stefano, Nicola, Leoni, Valerio, Mignarri, Andrea

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From the liver to the brain: manganese matters: Focus on cirrhosis-related Parkinsonism von Mignarri, Andrea, Federico, Antonio

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Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene von Locci, Sara, Bianchi, Silvia, Tessa, Alessandra, Santorelli, Filippo Maria, Mignarri, Andrea

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Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease von Quadri, Marialuisa, Federico, Antonio, Zhao, Tianna, Breedveld, Guido J., Battisti, Carla, Delnooz, Cathérine, Severijnen, Lies-Anne, Di Toro Mammarella, Lara, Mignarri, Andrea, Monti, Lucia, Sanna, Antioco, Lu, Peng, Punzo, Francesca, Cossu, Giovanni, Willemsen, Rob, Rasi, Fabrizio, Oostra, Ben A., van de Warrenburg, Bart P., Bonifati, Vincenzo

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