EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction von Palumbo, Francesca, Moglia, Cristina, Romano, Alessandro, Tessa, Alessandra, Canosa, Antonio, Calvo, Andrea, Gallone, Salvatore

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Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL -Related Neurological Disorders von Baggiani, Matteo, Damiani, Devid, Privitera, Flavia, Della Vecchia, Stefania, Tessa, Alessandra, Santorelli, Filippo Maria

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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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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review von Della Vecchia, Stefania, Tessa, Alessandra, Pasquariello, Rosa, Seabra, Luis, Crow, Yanick J, Battini, Roberta

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A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report von Caputo, Maria, Martinelli, Ilaria, Fini, Nicola, Gianferrari, Giulia, Simonini, Cecilia, Trovato, Rosanna, Santorelli, Filippo Maria, Tessa, Alessandra, Mandrioli, Jessica, Zucchi, Elisabetta

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Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene von Baggiani, Matteo, Santorelli, Filippo Maria, Mero, Serena, Privitera, Flavia, Damiani, Devid, Tessa, Alessandra

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New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia von Sardina, Francesca, Valente, Davide, Fattorini, Gaia, Cioffi, Ettore, Zanna, Gianmarco Dalla, Tessa, Alessandra, Trisciuoglio, Daniela, Soddu, Silvia, Santorelli, Filippo M., Casali, Carlo, Rinaldo, Cinzia

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Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome von Galatolo, Daniele, Kuo, Molly E., Mullen, Patrick, Meyer‐Schuman, Rebecca, Doccini, Stefano, Battini, Roberta, Lieto, Maria, Tessa, Alessandra, Filla, Alessandro, Francklyn, Christopher, Antonellis, Anthony, Santorelli, Filippo M.

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New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts von Mero, Serena, Salviati, Leonardo, Leuzzi, Vincenzo, Rubegni, Anna, Calderan, Cristina, Nardecchia, Francesca, Galatolo, Daniele, Desbats, Maria Andrea, Naef, Valentina, Gemignani, Federica, Novelli, Maria, Tessa, Alessandra, Battini, Roberta, Santorelli, Filippo M., Marchese, Maria

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A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21 von Riso, Vittorio, Galatolo, Daniele, Barghigiani, Melissa, Galosi, Serena, Tessa, Alessandra, Ricca, Ivana, Rossi, Salvatore, Caputi, Caterina, Cioffi, Ettore, Leuzzi, Vincenzo, Casali, Carlo, Santorelli, Filippo M., Silvestri, Gabriella

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Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospect... von Galatolo, Daniele, Tessa, Alessandra, Filla, Alessandro, Santorelli, Filippo M.

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Converging Role for REEP1/SPG31 in Oxidative Stress von Naef, Valentina, Meschini, Maria C, Tessa, Alessandra, Morani, Federica, Corsinovi, Debora, Ogi, Asahi, Marchese, Maria, Ori, Michela, Santorelli, Filippo M, Doccini, Stefano

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The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report von Matteoni, Enrico, Canosa, Antonio, Tessa, Alessandra, Natale, Gemma, Gallone, Salvatore

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Small Complex Rearrangement in HINT1 -Related Axonal Neuropathy von Tessa, Alessandra, Schifino, Mariapaola, Salvo, Eliana, Trovato, Rosanna, Cesana, Luca, Frosini, Silvia, Pasquariello, Rosa, Sgherri, Giada, Battini, Roberta, Bonaglia, Maria Clara, Santorelli, Filippo Maria, Astrea, Guja

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A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia von Satolli, Sara, De Micco, Rosa, Galatolo, Daniele, Tessa, Alessandra, Cirillo, Mario, Tessitore, Alessandro, Santorelli, Filippo Maria

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Clinical and molecular studies in two new cases of ARSACS von Ricca, Ivana, Morani, Federica, Bacci, Giacomo Maria, Nesti, Claudia, Caputo, Roberto, Tessa, Alessandra, Santorelli, Filippo Maria

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Spinocerebellar ataxia type 48: last but not least von De Michele, Giovanna, Galatolo, Daniele, Barghigiani, Melissa, Dello Iacovo, Diletta, Trovato, Rosanna, Tessa, Alessandra, Salvatore, Elena, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.

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SPG8 mutations in Italian families: clinical data and literature review von Ginanneschi, Federica, D’Amore, Angelica, Barghigiani, Melissa, Tessa, Alessandra, Rossi, Alessandro, 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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Docosahexaenoic acid in ARSACS: observations in two patients von Ricca, Ivana, Tessa, Alessandra, Trovato, Rosanna, Bacci, Giacomo Maria, Santorelli, Filippo Maria

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