Search Results - "Ponti, Clarissa"

Case report: Episodic ataxia without ataxia? by Gaudio, Andrea, Gotta, Fabio, Ponti, Clarissa, Sanguineri, Francesca, Trevisan, Lucia, Geroldi, Alessandro, Patrone, Serena, Gemelli, Chiara, Cabona, Corrado, Astrea, Guja, Fiorillo, Chiara, Gustincich, Stefano, Grandis, Marina, Mandich, Paola

“…Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical…”
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Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation by Giardina, Emiliano, Mandich, Paola, Ghidoni, Roberta, Ticozzi, Nicola, Rossi, Giacomina, Fenoglio, Chiara, Tiziano, Francesco Danilo, Esposito, Federica, Capellari, Sabina, Nacmias, Benedetta, Mineri, Rossana, Campopiano, Rosa, Di Pilla, Luana, Sammarone, Federica, Zampatti, Stefania, Peconi, Cristina, De Angelis, Flavio, Palmieri, Ilaria, Galandra, Caterina, Nicodemo, Eleonora, Origone, Paola, Gotta, Fabio, Ponti, Clarissa, Nicsanu, Roland, Benussi, Luisa, Peverelli, Silvia, Ratti, Antonia, Ricci, Martina, Di Fede, Giuseppe, Magri, Stefania, Serpente, Maria, Lattante, Serena, Domi, Teuta, Carrera, Paola, Saltimbanco, Elisa, Bagnoli, Silvia, Ingannato, Assunta, Albanese, Alberto, Tagliavini, Fabrizio, Lodi, Raffaele, Caltagirone, Carlo, Gambardella, Stefano, Valente, Enza Maria, Silani, Vincenzo

“…High repeat expansion (HRE) alleles in have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate…”
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Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement by Geroldi, Alessandro, Ponti, Clarissa, Mammi, Alessia, Patrone, Serena, Gotta, Fabio, Trevisan, Lucia, Sanguineri, Francesca, Origone, Paola, Gaudio, Andrea, La Barbera, Andrea, Cataldi, Matteo, Gemelli, Chiara, Massucco, Sara, Schenone, Angelo, Lanteri, Paola, Fiorillo, Chiara, Grandis, Marina, Mandich, Paola, Bellone, Emilia

“…Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the…”
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The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family by Mammi, Alessia, Geroldi, Alessandro, Patrone, Serena, Gotta, Fabio, Origone, Paola, Gaudio, Andrea, La Barbera, Andrea, Sanguineri, Francesca, Ponti, Clarissa, Iacomino, Michele, Traverso, Monica, Ferlazzo, Edoardo, Schenone, Angelo, Pascarella, Angelo, Marsico, Oreste, Mandich, Paola, Bellone, Emilia

“…Aim Biallelic mutations in the PTRH2 gene have been associated with infantile multisystem neurological, endocrine, and pancreatic disease (IMNEPD), a rare…”
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Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies by Geroldi, Alessandro, La Barbera, Andrea, Mammi, Alessia, Origone, Paola, Gaudio, Andrea, Ponti, Clarissa, Sanguineri, Francesca, Matà, Sabrina, Sperti, Martina, Carboni, Ilaria, Bellone, Emilia, Gotta, Fabio, Gemelli, Chiara, Massucco, Sara, Valeria, Guglielmino, Marinelli, Lucio, Grandis, Marina, Bisogni, Giulia, Sabatelli, Mario, Piscosquito, Giuseppe, Esposito, Gabriella, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Tozza, Stefano, Luigetti, Marco

“…Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently,…”
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A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers by Geroldi, Alessandro, Tozza, Stefano, Fiorillo, Chiara, Nolano, Maria, Fossa, Paola, Vitale, Floriana, Domi, Regi, Gaudio, Andrea, Mammi, Alessia, Patrone, Serena, Barbera, Andrea La, Origone, Paola, Ponti, Clarissa, Sanguineri, Francesca, Zara, Federico, Cataldi, Matteo, Salpietro, Vincenzo, Venturi, Consuelo Barbara, Massucco, Sara, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Bellone, Emilia, Gotta, Fabio

“…Background and Aims POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but…”
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Case report: Episodic ataxia without ataxia? by Gaudio, Andrea, Gotta, Fabio, Ponti, Clarissa, Sanguineri, Francesca, Trevisan, Lucia, Geroldi, Alessandro, Patrone, Serena, Gemelli, Chiara, Cabona, Corrado, Astrea, Guja, Fiorillo, Chiara, Gustincich, Stefano, Grandis, Marina, Mandich, Paola

“…Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical…”
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A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers by Geroldi, Alessandro, Tozza, Stefano, Fiorillo, Chiara, Nolano, Maria, Fossa, Paola, Vitale, Floriana, Domi, Regi, Gaudio, Andrea, Mammi, Alessia, Patrone, Serena, Barbera, Andrea La, Origone, Paola, Ponti, Clarissa, Sanguineri, Francesca, Zara, Federico, Cataldi, Matteo, Salpietro, Vincenzo, Venturi, Consuelo Barbara, Massucco, Sara, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Bellone, Emilia, Gotta, Fabio

“…BACKGROUND AND AIMSPOLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but…”
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