Works matching AU Servidei, Serenella

Results: 84
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    Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

    Published in:
    2019
    By:
    • Filosto, Massimiliano;
    • Cotti Piccinelli, Stefano;
    • Ravaglia, Sabrina;
    • Servidei, Serenella;
    • Moggio, Maurizio;
    • Musumeci, Olimpia;
    • Donati, Maria Alice;
    • Pegoraro, Elena;
    • Di Muzio, Antonio;
    • Maggi, Lorenzo;
    • Tonin, Paola;
    • Marrosu, Gianni;
    • Sancricca, Cristina;
    • Lerario, Alberto;
    • Sacchini, Michele;
    • Semplicini, Claudio;
    • Bozzoni, Virginia;
    • Telese, Roberta;
    • Bonanno, Silvia;
    • Piras, Rachele
    Publication type:
    journal article
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    Myoclonus in mitochondrial disorders.

    Published in:
    Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
    By:
    • Mancuso, Michelangelo;
    • Orsucci, Daniele;
    • Angelini, Corrado;
    • Bertini, Enrico;
    • Catteruccia, Michela;
    • Pegoraro, Elena;
    • Carelli, Valerio;
    • Valentino, Maria L.;
    • Comi, Giacomo P.;
    • Minetti, Carlo;
    • Bruno, Claudio;
    • Moggio, Maurizio;
    • Ienco, Elena Caldarazzo;
    • Mongini, Tiziana;
    • Vercelli, Liliana;
    • Primiano, Guido;
    • Servidei, Serenella;
    • Tonin, Paola;
    • Scarpelli, Mauro;
    • Toscano, Antonio
    Publication type:
    Article
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    Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study.

    Published in:
    Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-69123-x
    By:
    • Luigetti, Marco;
    • Vitali, Francesca;
    • Romano, Angela;
    • Sciarrone, Maria Ausilia;
    • Guglielmino, Valeria;
    • Ardito, Michelangelo;
    • Sabino, Andrea;
    • Servidei, Serenella;
    • Piro, Geny;
    • Carbone, Carmine;
    • Graziani, Francesca;
    • Lillo, Rosa;
    • Ferraro, Pietro Manuel;
    • Primiano, Guido
    Publication type:
    Article
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    To the Editor.

    Published in:
    2017
    By:
    • Monforte, Mauro;
    • Servidei, Serenella;
    • Ricci, Enzo;
    • Tasca, Giorgio
    Publication type:
    Letter to the Editor
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    Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

    Published in:
    Genes, 2021, v. 12, n. 3, p. 344, doi. 10.3390/genes12030344
    By:
    • Vaisfeld, Alessandro;
    • Bruno, Giorgia;
    • Petracca, Martina;
    • Bentivoglio, Anna Rita;
    • Servidei, Serenella;
    • Vita, Maria Gabriella;
    • Bove, Francesco;
    • Straccia, Giulia;
    • Dato, Clemente;
    • Di Iorio, Giuseppe;
    • Sampaolo, Simone;
    • Peluso, Silvio;
    • De Rosa, Anna;
    • De Michele, Giuseppe;
    • Barghigiani, Melissa;
    • Galatolo, Daniele;
    • Tessa, Alessandra;
    • Santorelli, Filippo;
    • Chiurazzi, Pietro;
    • Melone, Mariarosa Anna Beatrice
    Publication type:
    Article
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    Vitamin D in Neurological Diseases.

    Published in:
    2023
    By:
    • Plantone, Domenico;
    • Primiano, Guido;
    • Manco, Carlo;
    • Locci, Sara;
    • Servidei, Serenella;
    • De Stefano, Nicola
    Publication type:
    Literature Review
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    Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K V 4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4986, doi. 10.3390/ijms22094986
    By:
    • Zanni, Ginevra;
    • Hsiao, Chen-Tsung;
    • Fu, Ssu-Ju;
    • Tang, Chih-Yung;
    • Capuano, Alessandro;
    • Bosco, Luca;
    • Graziola, Federica;
    • Bellacchio, Emanuele;
    • Servidei, Serenella;
    • Primiano, Guido;
    • Soong, Bing-Wen;
    • Jeng, Chung-Jiuan;
    • Hoffman, Dax A.
    Publication type:
    Article
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    Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
    By:
    • Nicita, Francesco;
    • Stregapede, Fabrizia;
    • Tessa, Alessandra;
    • Bassi, Maria Teresa;
    • Jezela-Stanek, Aleksandra;
    • Primiano, Guido;
    • Pizzuti, Antonio;
    • Barghigiani, Melissa;
    • Nardella, Marta;
    • Zanni, Ginevra;
    • Servidei, Serenella;
    • Astrea, Guja;
    • Panzeri, Elena;
    • Maghini, Cristina;
    • Losito, Luciana;
    • Ploski, Rafal;
    • Gasperowicz, Piotr;
    • Santorelli, Filippo Maria;
    • Bertini, Enrico;
    • Travaglini, Lorena
    Publication type:
    Article
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    Muscle pain in mitochondrial diseases: a picture from the Italian network.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 4, p. 953, doi. 10.1007/s00415-019-09219-x
    By:
    • Filosto, Massimiliano;
    • Cotti Piccinelli, Stefano;
    • Lamperti, Costanza;
    • Mongini, Tiziana;
    • Servidei, Serenella;
    • Musumeci, Olimpia;
    • Tonin, Paola;
    • Santorelli, Filippo Maria;
    • Simoncini, Costanza;
    • Primiano, Guido;
    • Vercelli, Liliana;
    • Rubegni, Anna;
    • Galvagni, Anna;
    • Moggio, Maurizio;
    • Comi, Giacomo Pietro;
    • Carelli, Valerio;
    • Toscano, Antonio;
    • Padovani, Alessandro;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo
    Publication type:
    Article
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    Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.

    Published in:
    2015
    By:
    • Mancuso, Michelangelo;
    • Orsucci, Daniele;
    • Angelini, Corrado;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Comi, Giacomo;
    • Donati, Maria;
    • Federico, Antonio;
    • Minetti, Carlo;
    • Moggio, Maurizio;
    • Mongini, Tiziana;
    • Santorelli, Filippo;
    • Servidei, Serenella;
    • Tonin, Paola;
    • Toscano, Antonio;
    • Bruno, Claudio;
    • Bello, Luca;
    • Ienco, Elena;
    • Cardaioli, Elena;
    • Catteruccia, Michela
    Publication type:
    Erratum
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    Redefining phenotypes associated with mitochondrial DNA single deletion.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
    By:
    • Mancuso, Michelangelo;
    • Orsucci, Daniele;
    • Angelini, Corrado;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Comi, Giacomo;
    • Donati, Maria;
    • Federico, Antonio;
    • Minetti, Carlo;
    • Moggio, Maurizio;
    • Mongini, Tiziana;
    • Santorelli, Filippo;
    • Servidei, Serenella;
    • Tonin, Paola;
    • Toscano, Antonio;
    • Bruno, Claudio;
    • Bello, Luca;
    • Caldarazzo Ienco, Elena;
    • Cardaioli, Elena;
    • Catteruccia, Michela
    Publication type:
    Article
    32

    'Myo-cardiomyopathy' is commonly associated with the A8344G 'MERRF' mutation.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 3, p. 701, doi. 10.1007/s00415-014-7632-0
    By:
    • Catteruccia, Michela;
    • Sauchelli, Donato;
    • Della Marca, Giacomo;
    • Primiano, Guido;
    • Cuccagna, Cristina;
    • Bernardo, Daniela;
    • Leo, Milena;
    • Camporeale, Antonella;
    • Sanna, Tommaso;
    • Cianfoni, Alessandro;
    • Servidei, Serenella
    Publication type:
    Article
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    The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

    Published in:
    Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
    By:
    • Mancuso, Michelangelo;
    • Orsucci, Daniele;
    • Angelini, Corrado;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Comi, Giacomo;
    • Donati, Alice;
    • Minetti, Carlo;
    • Moggio, Maurizio;
    • Mongini, Tiziana;
    • Servidei, Serenella;
    • Tonin, Paola;
    • Toscano, Antonio;
    • Uziel, Graziella;
    • Bruno, Claudio;
    • Ienco, Elena;
    • Filosto, Massimiliano;
    • Lamperti, Costanza;
    • Catteruccia, Michela;
    • Moroni, Isabella
    Publication type:
    Article
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    The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. 24, p. 3161, doi. 10.1093/hmg/ddh330
    By:
    • Lee, Hsien-Yang;
    • Xu, Ying;
    • Huang, Yong;
    • Ahn, Andrew H.;
    • Auburger, Georg W.J.;
    • Pandolfo, Massimo;
    • Kwieciński, Hubert;
    • Grimes, David A.;
    • Lang, Anthony E.;
    • Nielsen, Jorgen E.;
    • Averyanov, Yuri;
    • Servidei, Serenella;
    • Friedman, Andrzej;
    • Bogaert, Patrick Van;
    • Abramowicz, Marc J.;
    • Bruno, Michiko K.;
    • Sorensen, Beatrice F.;
    • Tang, Ling;
    • Fu, Ying-Hui;
    • Ptáček, Louis J.
    Publication type:
    Article
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    Hospital admissions from the emergency department of adult patients affected by myopathies.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16214
    By:
    • Monforte, Mauro;
    • Torchia, Eleonora;
    • Bortolani, Sara;
    • Ravera, Beatrice;
    • Ricci, Enzo;
    • Silvestri, Gabriella;
    • Servidei, Serenella;
    • Primiano, Guido;
    • Mirabella, Massimiliano;
    • Sabatelli, Mario;
    • Mercuri, Eugenio;
    • Franceschi, Francesco;
    • Calabresi, Paolo;
    • Covino, Marcello;
    • Tasca, Giorgio
    Publication type:
    Article
    40

    Inflammatory profile in mitochondrial diseases: A cohort study.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 10, p. 3409, doi. 10.1111/ene.15962
    By:
    • Primiano, Guido;
    • Plantone, Domenico;
    • Piro, Geny;
    • Carbone, Carmine;
    • Sabino, Andrea;
    • Sancricca, Cristina;
    • Di Nottia, Michela;
    • Carrozzo, Rosalba;
    • Servidei, Serenella
    Publication type:
    Article
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    Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 2, p. 399, doi. 10.1111/ene.15613
    By:
    • Pizzamiglio, Chiara;
    • Pitceathly, Robert D. S.;
    • Lunn, Michael P.;
    • Brady, Stefen;
    • De Marchi, Fabiola;
    • Galan, Lucia;
    • Heckmann, Jeannine M.;
    • Horga, Alejandro;
    • Molnar, Maria J.;
    • Oliveira, Acary S. B.;
    • Pinto, Wladimir B. V. R.;
    • Primiano, Guido;
    • Santos, Ernestina;
    • Schoser, Benedikt;
    • Servidei, Serenella;
    • Sgobbi Souza, Paulo V.;
    • Venugopalan, Vishnu;
    • Hanna, Michael G.;
    • Dimachkie, Mazen M.;
    • Machado, Pedro M.
    Publication type:
    Article
    42

    European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 6, p. 1571, doi. 10.1111/ene.15267
    By:
    • Aleksovska, Katina;
    • Kobulashvili, Teia;
    • Costa, Joao;
    • Zimmermann, Georg;
    • Ritchie, Karen;
    • Reinhard, Carola;
    • Vignatelli, Luca;
    • Fanciulli, Alessandra;
    • Damian, Maxwel;
    • Pavlakova, Lucia;
    • Burgunder, Jean‐Marc;
    • Kopishinskaya, Svetlana;
    • Rakusa, Martin;
    • Kovacs, Norbert;
    • Erdogan, Fusun Ferda;
    • Linton, Lori Renna;
    • Copetti, Massimiliano;
    • Lamperti, Costanza;
    • Servidei, Serenella;
    • Evangelista, Theresina
    Publication type:
    Article
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    Metabolic causes of myoglobinuria.

    Published in:
    Annals of Neurology, 1990, v. 27, n. 2, p. 181, doi. 10.1002/ana.410270214
    By:
    • Tonin, Paola;
    • Lewis, Paulette;
    • Servidei, Serenella;
    • Dimauro, Salvatore
    Publication type:
    Article
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    Cytochrome c oxidase deficiency in leigh syndrome.

    Published in:
    Annals of Neurology, 1987, v. 22, n. 4, p. 498, doi. 10.1002/ana.410220409
    By:
    • DiMauro, Salvatore;
    • Servidei, Serenella;
    • Zeviani, Massimo;
    • DiRocco, Maja;
    • DeVivo, Darryl C.;
    • DiDonato, Stefano;
    • Uziel, Graziella;
    • Berry, Kenneth;
    • Hoganson, George;
    • Johnsen, Stanley D.;
    • Johnson, Peter C.
    Publication type:
    Article
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    Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

    Published in:
    Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
    By:
    • Ticci, Chiara;
    • Sicca, Federico;
    • Ardissone, Anna;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Diodato, Daria;
    • Di Vito, Lidia;
    • Filosto, Massimiliano;
    • La Morgia, Chiara;
    • Lamperti, Costanza;
    • Martinelli, Diego;
    • Moroni, Isabella;
    • Musumeci, Olimpia;
    • Orsucci, Daniele;
    • Pancheri, Elia;
    • Peverelli, Lorenzo;
    • Primiano, Guido;
    • Rubegni, Anna;
    • Servidei, Serenella;
    • Siciliano, Gabriele
    Publication type:
    Article
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