Works by Galosi, Serena

Results: 35
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    The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.

    Published in:
    Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170061
    By:
    • Pannone, Luca;
    • Muto, Valentina;
    • Nardecchia, Francesca;
    • Di Rocco, Martina;
    • Marchei, Emilia;
    • Tosato, Federica;
    • Petrini, Stefania;
    • Onorato, Giada;
    • Lanza, Enrico;
    • Bertuccini, Lucia;
    • Manti, Filippo;
    • Folli, Viola;
    • Galosi, Serena;
    • Di Schiavi, Elia;
    • Leuzzi, Vincenzo;
    • Tartaglia, Marco;
    • Martinelli, Simone
    Publication type:
    Article
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    Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

    Published in:
    Movement Disorders, 2024, v. 39, n. 7, p. 1225, doi. 10.1002/mds.29795
    By:
    • Galosi, Serena;
    • Mancini, Cecilia;
    • Commone, Anna;
    • Calligari, Paolo;
    • Caputo, Viviana;
    • Nardecchia, Francesca;
    • Carducci, Claudia;
    • van den Heuvel, Lambertus P.;
    • Pizzi, Simone;
    • Bruselles, Alessandro;
    • Niceta, Marcello;
    • Martinelli, Simone;
    • Rodenburg, Richard J.;
    • Tartaglia, Marco;
    • Leuzzi, Vincenzo
    Publication type:
    Article
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    Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

    Published in:
    2019
    By:
    • Carecchio, Miryam;
    • Invernizzi, Federica;
    • Gonzàlez‐Latapi, Paulina;
    • Panteghini, Celeste;
    • Zorzi, Giovanna;
    • Romito, Luigi;
    • Leuzzi, Vincenzo;
    • Galosi, Serena;
    • Reale, Chiara;
    • Zibordi, Federica;
    • Joseph, Agnel P.;
    • Topf, Maya;
    • Piano, Carla;
    • Bentivoglio, Anna Rita;
    • Girotti, Floriano;
    • Morana, Paolo;
    • Morana, Benedetto;
    • Kurian, Manju A.;
    • Garavaglia, Barbara;
    • Mencacci, Niccolò E.
    Publication type:
    journal article
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    Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

    Published in:
    Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
    By:
    • Ciolfi, Andrea;
    • Foroutan, Aidin;
    • Capuano, Alessandro;
    • Pedace, Lucia;
    • Travaglini, Lorena;
    • Pizzi, Simone;
    • Andreani, Marco;
    • Miele, Evelina;
    • Invernizzi, Federica;
    • Reale, Chiara;
    • Panteghini, Celeste;
    • Iascone, Maria;
    • Niceta, Marcello;
    • Gavrilova, Ralitza H.;
    • Schultz-Rogers, Laura;
    • Agolini, Emanuele;
    • Bedeschi, Maria Francesca;
    • Prontera, Paolo;
    • Garibaldi, Matteo;
    • Galosi, Serena
    Publication type:
    Article
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    10

    Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 3, p. 1476, doi. 10.1007/s00415-021-10712-5
    By:
    • 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.
    Publication type:
    Article
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    NGS in Hereditary Ataxia: When Rare Becomes Frequent.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8490, doi. 10.3390/ijms22168490
    By:
    • 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
    Publication type:
    Article
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    Bradykinesia and dystonia.

    Published in:
    Dystonia (2813-2106), 2023, p. 1, doi. 10.3389/dyst.2023.11448
    By:
    • Paparella, Giulia;
    • Guerra, Andrea;
    • Galosi, Serena;
    • Cannavacciuolo, Antonio;
    • Angelini, Luca;
    • Popa, Traian;
    • Berardelli, Alfredo;
    • Bologna, Matteo
    Publication type:
    Article
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    Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
    By:
    • De Maria, Beatrice;
    • Balestrini, Simona;
    • Mei, Davide;
    • Melani, Federico;
    • Pellacani, Simona;
    • Pisano, Tiziana;
    • Rosati, Anna;
    • Scaturro, Giusi M.;
    • Giordano, Lucio;
    • Cantalupo, Gaetano;
    • Fontana, Elena;
    • Zammarchi, Cristina;
    • Said, Edith;
    • Leuzzi, Vincenzo;
    • Mastrangelo, Mario;
    • Galosi, Serena;
    • Parrini, Elena;
    • Guerrini, Renzo
    Publication type:
    Article
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    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.

    Published in:
    Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815
    By:
    • Domínguez Carral, Jana;
    • Reinhard, Carola;
    • Ebrahimi-Fakhari, Darius;
    • Dorison, Nathalie;
    • Galosi, Serena;
    • Garone, Giacomo;
    • Malenica, Masa;
    • Ravelli, Claudia;
    • Serdaroglu, Esra;
    • van de Pol, Laura A.;
    • Koy, Anne;
    • Leuzzi, Vincenzo;
    • Roubertie, Agathe;
    • Lin, Jean-Pierre;
    • Doummar, Diane;
    • Cif, Laura;
    • Ortigoza-Escobar, Juan Darío
    Publication type:
    Article
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