Works matching AU Gellera, Cinzia

Results: 86
    1

    Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 695, doi. 10.3390/jcm9030695
    By:
    • Mosca, Rosario;
    • van de Vlekkert, Diantha;
    • Campos, Yvan;
    • Fremuth, Leigh E.;
    • Cadaoas, Jaclyn;
    • Koppaka, Vish;
    • Kakkis, Emil;
    • Tifft, Cynthia;
    • Toro, Camilo;
    • Allievi, Simona;
    • Gellera, Cinzia;
    • Canafoglia, Laura;
    • Visser, Gepke;
    • Annunziata, Ida;
    • d'Azzo, Alessandra
    Publication type:
    Article
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    Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
    By:
    • Dardis, Andrea;
    • Zampieri, Stefania;
    • Gellera, Cinzia;
    • Carrozzo, Rosalba;
    • Cattarossi, Silvia;
    • Peruzzo, Paolo;
    • Dariol, Rosalia;
    • Sechi, Annalisa;
    • Deodato, Federica;
    • Caccia, Claudio;
    • Verrigni, Daniela;
    • Gasperini, Serena;
    • Fiumara, Agata;
    • Fecarotta, Simona;
    • Carecchio, Miryam;
    • Filosto, Massimiliano;
    • Santoro, Lucia;
    • Borroni, Barbara;
    • Bordugo, Andrea;
    • Brancati, Francesco
    Publication type:
    Article
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    Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.

    Published in:
    Frontiers in Cellular Neuroscience, 2024, p. 01, doi. 10.3389/fncel.2024.1367838
    By:
    • Mosca, Ilaria;
    • Freri, Elena;
    • Ambrosino, Paolo;
    • Belperio, Giorgio;
    • Granata, Tiziana;
    • Canafoglia, Laura;
    • Ragona, Francesca;
    • Solazzi, Roberta;
    • Filareto, Ilaria;
    • Castellotti, Barbara;
    • Messina, Giuliana;
    • Gellera, Cinzia;
    • DiFrancesco, Jacopo C.;
    • Soldovieri, Maria Virginia;
    • Taglialatela, Maurizio
    Publication type:
    Article
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    A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 12, p. e222, doi. 10.1111/epi.17777
    By:
    • DiFrancesco, Jacopo C.;
    • Ragona, Francesca;
    • Murano, Carmen;
    • Frosio, Anthony;
    • Melgari, Dario;
    • Binda, Anna;
    • Calamaio, Serena;
    • Prevostini, Rachele;
    • Mauri, Mario;
    • Canafoglia, Laura;
    • Castellotti, Barbara;
    • Messina, Giuliana;
    • Gellera, Cinzia;
    • Previtali, Roberto;
    • Veggiotti, Pierangelo;
    • Milanesi, Raffaella;
    • Barbuti, Andrea;
    • Solazzi, Roberta;
    • Freri, Elena;
    • Granata, Tiziana
    Publication type:
    Article
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    A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 7, p. e148, doi. 10.1111/epi.17656
    By:
    • Ambrosino, Paolo;
    • Ragona, Francesca;
    • Mosca, Ilaria;
    • Vannicola, Chiara;
    • Canafoglia, Laura;
    • Solazzi, Roberta;
    • Rivolta, Ilaria;
    • Freri, Elena;
    • Granata, Tiziana;
    • Messina, Giuliana;
    • Castellotti, Barbara;
    • Gellera, Cinzia;
    • Soldovieri, Maria Virginia;
    • DiFrancesco, Jacopo Cosimo;
    • Taglialatela, Maurizio
    Publication type:
    Article
    9

    Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2474, doi. 10.1111/epi.16699
    By:
    • Matricardi, Sara;
    • De Liso, Paola;
    • Freri, Elena;
    • Costa, Paola;
    • Castellotti, Barbara;
    • Magri, Stefania;
    • Gellera, Cinzia;
    • Granata, Tiziana;
    • Musante, Luciana;
    • Lesca, Gaetan;
    • Oertel, Julie;
    • Craiu, Dana;
    • Hammer, Trine B.;
    • Møller, Rikke S.;
    • Barisic, Nina;
    • Abou Jamra, Rami;
    • Polster, Tilman;
    • Vigevano, Federico;
    • Marini, Carla
    Publication type:
    Article
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    Brain diffusion-weighted imaging in Friedreich's ataxia.

    Published in:
    Movement Disorders, 2011, v. 26, n. 4, p. 705, doi. 10.1002/mds.23518
    By:
    • Rizzo, Giovanni;
    • Tonon, Caterina;
    • Valentino, Maria Lucia;
    • Manners, David;
    • Fortuna, Filippo;
    • Gellera, Cinzia;
    • Pini, Antonella;
    • Ghezzo, Alessandro;
    • Baruzzi, Agostino;
    • Testa, Claudia;
    • Malucelli, Emil;
    • Barbiroli, Bruno;
    • Carelli, Valerio;
    • Lodi, Raffaele
    Publication type:
    Article
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    Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.

    Published in:
    Biomedicines, 2020, v. 8, n. 2, p. 21, doi. 10.3390/biomedicines8020021
    By:
    • Bonanno, Silvia;
    • Marcuzzo, Stefania;
    • Malacarne, Claudia;
    • Giagnorio, Eleonora;
    • Masson, Riccardo;
    • Zanin, Riccardo;
    • Arnoldi, Maria Teresa;
    • Andreetta, Francesca;
    • Simoncini, Ornella;
    • Venerando, Anna;
    • Gellera, Cinzia;
    • Pantaleoni, Chiara;
    • Mantegazza, Renato;
    • Bernasconi, Pia;
    • Baranello, Giovanni;
    • Maggi, Lorenzo
    Publication type:
    Article
    21

    Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

    Published in:
    JAMA Neurology, 2016, v. 73, n. 7, p. 812, doi. 10.1001/jamaneurol.2016.1114
    By:
    • Fogh, Isabella;
    • Kuang Lin;
    • Tiloca, Cinzia;
    • Rooney, James;
    • Gellera, Cinzia;
    • Diekstra, Frank P.;
    • Ratti, Antonia;
    • Shatunov, Aleksey;
    • van Es, Michael A.;
    • Proitsi, Petroula;
    • Jones, Ashley;
    • Sproviero, William;
    • Chiò, Adriano;
    • McLaughlin, Russell Lewis;
    • Sorarù, Gianni;
    • Corrado, Lucia;
    • Stahl, Daniel;
    • Del Bo, Roberto;
    • Cereda, Cristina;
    • Castellotti, Barbara
    Publication type:
    Article
    22

    Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease.

    Published in:
    Cells (2073-4409), 2020, v. 9, n. 1, p. 1, doi. 10.3390/cells9010196
    By:
    • Vernizzi, Luisa;
    • Paiardi, Chiara;
    • Licata, Giusimaria;
    • Vitali, Teresa;
    • Santarelli, Stefania;
    • Raneli, Martino;
    • Manelli, Vera;
    • Rizzetto, Manuela;
    • Gioria, Mariarosa;
    • Pasini, Maria E.;
    • Grifoni, Daniela;
    • Vanoni, Maria A.;
    • Gellera, Cinzia;
    • Taroni, Franco;
    • Bellosta, Paola
    Publication type:
    Article
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    Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200656
    By:
    • Lund, Annastiina;
    • Udd, Bjarne;
    • Juvonen, Vesa;
    • Andersen, Peter M;
    • Cederquist, Kristina;
    • Davis, Mark;
    • Gellera, Cinzia;
    • Kölmel, Christina;
    • Ronnevi, Lars-Olof;
    • Sperfeld, Anne-Dorte;
    • Sörensen, Sven- Asger;
    • Tranebjaerg, Lisbeth;
    • Van Maldergem, Lionel;
    • Watanabe, Mitsunori;
    • Weber, Markus;
    • Yeung, Leone;
    • Savontaus, Marja-Liisa
    Publication type:
    Article
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    Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

    Published in:
    Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544
    By:
    • Di Bella, Daniela;
    • Lazzaro, Federico;
    • Brusco, Alfredo;
    • Plumari, Massimo;
    • Battaglia, Giorgio;
    • Pastore, Annalisa;
    • Finardi, Adele;
    • Cagnoli, Claudia;
    • Tempia, Filippo;
    • Frontali, Marina;
    • Veneziano, Liana;
    • Sacco, Tiziana;
    • Boda, Enrica;
    • Brussino, Alessandro;
    • Bonn, Florian;
    • Castellotti, Barbara;
    • Baratta, Silvia;
    • Mariotti, Caterina;
    • Gellera, Cinzia;
    • Fracasso, Valentina
    Publication type:
    Article
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    Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5673, doi. 10.3390/ijms22115673
    By:
    • Malacarne, Claudia;
    • Galbiati, Mariarita;
    • Giagnorio, Eleonora;
    • Cavalcante, Paola;
    • Salerno, Franco;
    • Andreetta, Francesca;
    • Cagnoli, Cinza;
    • Taiana, Michela;
    • Nizzardo, Monica;
    • Corti, Stefania;
    • Pensato, Viviana;
    • Venerando, Anna;
    • Gellera, Cinzia;
    • Fenu, Silvia;
    • Pareyson, Davide;
    • Masson, Riccardo;
    • Maggi, Lorenzo;
    • Dalla Bella, Eleonora;
    • Lauria, Giuseppe;
    • Mantegazza, Renato
    Publication type:
    Article
    32

    Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 9, p. 4219, doi. 10.1007/s00415-023-11762-7
    By:
    • Benzoni, Chiara;
    • Moscatelli, Marco;
    • Farina, Laura;
    • Magri, Stefania;
    • Ciano, Claudia;
    • Scaioli, Vidmer;
    • Alverà, Sara;
    • Cammarata, Gabriella;
    • Bianchi-Marzoli, Stefania;
    • Castellani, Massimo;
    • Zito, Felicia Margherita;
    • Marotta, Giorgio;
    • Piacentini, Sylvie;
    • Villacara, Alberto;
    • Mantegazza, Renato;
    • Gellera, Cinzia;
    • Durães, João;
    • Gouveia, Ana;
    • Matos, Anabela;
    • do Carmo Macário, Maria
    Publication type:
    Article
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    Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 6, p. 1439, doi. 10.1007/s00415-019-09280-6
    By:
    • Castellotti, Barbara;
    • Ragona, Francesca;
    • Freri, Elena;
    • Solazzi, Roberta;
    • Ciardullo, Stefano;
    • Tricomi, Giovanni;
    • Venerando, Anna;
    • Salis, Barbara;
    • Canafoglia, Laura;
    • Villani, Flavio;
    • Franceschetti, Silvana;
    • Nardocci, Nardo;
    • Gellera, Cinzia;
    • DiFrancesco, Jacopo C.;
    • Granata, Tiziana
    Publication type:
    Article
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    The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020, v. 21, n. 3/4, p. 273, doi. 10.1080/21678421.2019.1704011
    By:
    • Corrado, Lucia;
    • Pensato, Viviana;
    • Croce, Roberta;
    • Di Pierro, Alice;
    • Mellone, Simona;
    • Dalla Bella, Eleonora;
    • Salsano, Ettore;
    • Paraboschi, Elvezia Maria;
    • Giordano, Mara;
    • Saraceno, Massimo;
    • Mazzini, Letizia;
    • Gellera, Cinzia;
    • D'Alfonso, Sandra
    Publication type:
    Article
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    Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 341, doi. 10.1002/ajmg.b.32806
    By:
    • Piras, Ignazio Stefano;
    • Picinelli, Chiara;
    • Iennaco, Raffaele;
    • Baccarin, Marco;
    • Castronovo, Paola;
    • Tomaiuolo, Pasquale;
    • Cucinotta, Francesca;
    • Ricciardello, Arianna;
    • Turriziani, Laura;
    • Nanetti, Lorenzo;
    • Mariotti, Caterina;
    • Gellera, Cinzia;
    • Lintas, Carla;
    • Sacco, Roberto;
    • Zuccato, Chiara;
    • Cattaneo, Elena;
    • Persico, Antonio M.
    Publication type:
    Article
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    Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 3, p. 934, doi. 10.1111/ene.14646
    By:
    • Di Bella, Daniela;
    • Magri, Stefania;
    • Benzoni, Chiara;
    • Farina, Laura;
    • Maccagnano, Carmelo;
    • Sarto, Elisa;
    • Moscatelli, Marco;
    • Baratta, Silvia;
    • Ciano, Claudia;
    • Piacentini, Sylvie H. M. J.;
    • Draghi, Lara;
    • Mauro, Elena;
    • Pareyson, Davide;
    • Gellera, Cinzia;
    • Taroni, Franco;
    • Salsano, Ettore
    Publication type:
    Article
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    Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

    Published in:
    Neurogenetics, 2013, v. 14, n. 3/4, p. 173, doi. 10.1007/s10048-013-0364-y
    By:
    • Ramos, Eliana;
    • Latourelle, Jeanne;
    • Gillis, Tammy;
    • Mysore, Jayalakshmi;
    • Squitieri, Ferdinando;
    • Pardo, Alba;
    • Donato, Stefano;
    • Gellera, Cinzia;
    • Hayden, Michael;
    • Morrison, Patrick;
    • Nance, Martha;
    • Ross, Christopher;
    • Margolis, Russell;
    • Gomez-Tortosa, Estrella;
    • Ayuso, Carmen;
    • Suchowersky, Oksana;
    • Trent, Ronald;
    • McCusker, Elizabeth;
    • Novelletto, Andrea;
    • Frontali, Marina
    Publication type:
    Article
    48

    Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

    Published in:
    Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
    By:
    • Castellotti, Barbara;
    • Mariotti, Caterina;
    • Rimoldi, Marco;
    • Fancellu, Roberto;
    • Plumari, Massimo;
    • Caimi, Sara;
    • Uziel, Graziella;
    • Nardocci, Nardo;
    • Moroni, Isabella;
    • Zorzi, Giovanna;
    • Pareyson, Davide;
    • Bella, Daniela;
    • Donato, Stefano;
    • Taroni, Franco;
    • Gellera, Cinzia
    Publication type:
    Article
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