Works by Primiano, Guido

Results: 63
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    Multicentre case-control study on the association between COVID-19 vaccines and neurological disorders (COVIVAX).

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-88837-0
    By:
    • Pupillo, Elisabetta;
    • Bianchi, Elisa;
    • Beghi, Ettore;
    • Pedrazzini, Francesco Andrea;
    • Giglio, Angela;
    • Schilke, Edoardo Dalmato;
    • Percetti, Marco;
    • Colleoni, Carlo Morotti;
    • Mainini, Gabriele;
    • Calabresi, Paolo;
    • Primiano, Guido;
    • Frisullo, Giovanni;
    • Padovani, Alessandro;
    • Cristillo, Viviana;
    • Pilotto, Andrea;
    • Arici, Davide;
    • Gipponi, Stefano;
    • Tedeschi, Gioacchino;
    • d'Ambrosio, Alessandro;
    • Melisi, Rosario Domenico
    Publication type:
    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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    Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).

    Published in:
    Neurological Sciences, 2024, v. 45, n. 10, p. 5023, doi. 10.1007/s10072-024-07562-0
    By:
    • Galosi, Eleonora;
    • Costanzo, Rocco;
    • Forcina, Francesca;
    • Morino, Stefania;
    • Antonini, Giovanni;
    • Salvetti, Marco;
    • Lauletta, Antonio;
    • Luigetti, Marco;
    • Romano, Angela;
    • Primiano, Guido;
    • Guglielmino, Valeria;
    • Fionda, Laura;
    • Garibaldi, Matteo;
    • Esposito, Nicoletta;
    • Falco, Pietro;
    • di Pietro, Giuseppe;
    • Truini, Andrea;
    • Leonardi, Luca
    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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    Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
    By:
    • Strafella, Claudia;
    • Colantoni, Luca;
    • Megalizzi, Domenica;
    • Trastulli, Giulia;
    • Piorgo, Emma Proietti;
    • Primiano, Guido;
    • Sancricca, Cristina;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Caltagirone, Carlo;
    • Filosto, Massimiliano;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Cascella, Raffaella;
    • Giardina, Emiliano
    Publication type:
    Article
    14

    Quantitative sensory testing and skin biopsy findings in late‐onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO).

    Published in:
    Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 390, doi. 10.1111/jns.12586
    By:
    • Leonardi, Luca;
    • Costanzo, Rocco;
    • Forcina, Francesca;
    • Morino, Stefania;
    • Antonini, Giovanni;
    • Salvetti, Marco;
    • Luigetti, Marco;
    • Romano, Angela;
    • Primiano, Guido;
    • Guglielmino, Valeria;
    • Fionda, Laura;
    • Garibaldi, Matteo;
    • Lauletta, Antonio;
    • Rossini, Elena;
    • Tufano, Laura;
    • Ceccanti, Marco;
    • Esposito, Nicoletta;
    • Falco, Pietro;
    • di Pietro, Giuseppe;
    • Truini, Andrea
    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
    24

    A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16133, doi. 10.3390/ijms232416133
    By:
    • Luigetti, Marco;
    • Guglielmino, Valeria;
    • Romano, Angela;
    • Sciarrone, Maria Ausilia;
    • Vitali, Francesca;
    • Sabino, Andrea;
    • Gervasoni, Jacopo;
    • Primiano, Aniello;
    • Santucci, Lavinia;
    • Moroni, Rossana;
    • Primiano, Guido
    Publication type:
    Article
    25

    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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    Elevated serum concentrations of GFAP in hereditary transthyretin amyloidosis since pre-symptomatic stages.

    Published in:
    Journal of Neurology, 2025, v. 272, n. 5, p. 1, doi. 10.1007/s00415-025-13072-6
    By:
    • Plantone, Domenico;
    • Luigetti, Marco;
    • Manco, Carlo;
    • Romano, Angela;
    • Leonardi, Luca;
    • Guglielmino, Valeria;
    • Forcina, Francesca;
    • Ceccanti, Marco;
    • Inghilleri, Maurizio;
    • Manganelli, Fiore;
    • Tozza, Stefano;
    • Sciarrone, Maria Ausilia;
    • Vitali, Francesca;
    • Sabino, Andrea;
    • Righi, Delia;
    • Stufano, Angela;
    • Stromillo, Maria Laura;
    • De Stefano, Nicola;
    • Calabresi, Paolo;
    • Primiano, Guido
    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
    28

    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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    '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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    Comparative Analysis of SiMoA and Ella Immunoassay Platforms for Measuring Serum Neurofilament Light Chain Levels in ATTRv With Polyneuropathy and Presymptomatic Carriers.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 6, p. 1, doi. 10.1111/ene.70215
    By:
    • Primiano, Guido;
    • Luigetti, Marco;
    • Righi, Delia;
    • Romano, Angela;
    • Leonardi, Luca;
    • Guglielmino, Valeria;
    • Forcina, Francesca;
    • Ceccanti, Marco;
    • Inghilleri, Maurizio;
    • Manganelli, Fiore;
    • Tozza, Stefano;
    • Sciarrone, Maria Ausilia;
    • Vitali, Francesca;
    • Sabino, Andrea;
    • Manco, Carlo;
    • Stufano, Angela;
    • Stromillo, Maria Laura;
    • De Stefano, Nicola;
    • Calabresi, Paolo;
    • Plantone, Domenico
    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
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    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
    36

    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
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    Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 2, p. 564, doi. 10.1111/ene.15161
    By:
    • Damato, Valentina;
    • Papi, Claudia;
    • Spagni, Gregorio;
    • Evoli, Amelia;
    • Silvestri, Gabriella;
    • Masi, Gianvito;
    • Sabatelli, Eleonora;
    • Campetella, Lucia;
    • McKeon, Andrew;
    • Andreetta, Francesca;
    • Riso, Vittorio;
    • Monte, Gabriele;
    • Luigetti, Marco;
    • Primiano, Guido;
    • Calabresi, Paolo;
    • Iorio, Raffaele
    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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    A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.

    Published in:
    EMBO Molecular Medicine, 2023, v. 15, n. 7, p. 1, doi. 10.15252/emmm.202216951
    By:
    • Southwell, Nneka;
    • Primiano, Guido;
    • Nadkarni, Viraj;
    • Attarwala, Nabeel;
    • Beattie, Emelie;
    • Miller, Dawson;
    • Alam, Sumaitaah;
    • Liparulo, Irene;
    • Shurubor, Yevgeniya I;
    • Valentino, Maria Lucia;
    • Carelli, Valerio;
    • Servidei, Serenella;
    • Gross, Steven S;
    • Manfredi, Giovanni;
    • Chen, Qiuying;
    • D'Aurelio, Marilena
    Publication type:
    Article
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    Copper deficiency myelopathy: A report of two cases.

    Published in:
    Journal of Spinal Cord Medicine, 2015, v. 38, n. 4, p. 559, doi. 10.1179/2045772314Y.0000000268
    By:
    • Plantone, Domenico;
    • Primiano, Guido;
    • Renna, Rosaria;
    • Restuccia, Domenico;
    • Iorio, Raffaele;
    • Patanella, Katia A.;
    • Ferilli, Michela N.;
    • Servidei, Serenella
    Publication type:
    Article
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    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
    By:
    • El-Hassar, Lynda;
    • Amara, Ahmed;
    • Sanson, Benoit;
    • Lacatus, Oana;
    • Amir Belhouchet, Ahmed;
    • Kroneman, Madelon;
    • Claeys, Kristl;
    • Plançon, Jean Philippe;
    • Rodolico, Carmelo;
    • Primiano, Guido;
    • Trojsi, Francesca;
    • Filosto, Massimiliano;
    • Mongini, Tiziana Enrica;
    • Bortolani, Sara;
    • Monforte, Mauro;
    • Carraro, Elena;
    • Maggi, Lorenzo;
    • Ricci, Federica;
    • Silani, Vincenzo;
    • Orsucci, Daniele
    Publication type:
    Article
    50

    Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

    Published in:
    Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01747-2
    By:
    • Strafella, Claudia;
    • Megalizzi, Domenica;
    • Trastulli, Giulia;
    • Proietti Piorgo, Emma;
    • Colantoni, Luca;
    • Tasca, Giorgio;
    • Monforte, Mauro;
    • Zampatti, Stefania;
    • Primiano, Guido;
    • Sancricca, Cristina;
    • Bortolani, Sara;
    • Torchia, Eleonora;
    • Ravera, Beatrice;
    • Torri, Francesca;
    • Gadaleta, Giulio;
    • Risi, Barbara;
    • Caria, Filomena;
    • Gerardi, Francesca;
    • Carraro, Elena;
    • Gioiosa, Valeria
    Publication type:
    Article