Works by Primiano, Guido

Results: 57

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.
Published in:
Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01297-5
By:
- Romozzi, Marina;
- Primiano, Guido;
- Rollo, Eleonora;
- Travaglini, Lorena;
- Calabresi, Paolo;
- Servidei, Serenella;
- Vollono, Catello
Publication type:
Article
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
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
Correction to: Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.
Published in:
Neurological Sciences, 2023, v. 44, n. 2, p. 789, doi. 10.1007/s10072-022-06462-5
By:
- Primiano, Guido;
- Rollo, Eleonora;
- Romozzi, Marina;
- Calabresi, Paolo;
- Servidei, Serenella;
- Vollono, Catello
Publication type:
Article
Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.
Published in:
Neurological Sciences, 2022, v. 43, n. 12, p. 6955, doi. 10.1007/s10072-022-06391-3
By:
- Primiano, Guido;
- Rollo, Eleonora;
- Romozzi, Marina;
- Calabresi, Paolo;
- Servidei, Serenella;
- Vollono, Catello
Publication type:
Article
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.
Published in:
2022
By:
- Luigetti, Marco;
- Di Paolantonio, Andrea;
- Guglielmino, Valeria;
- Romano, Angela;
- Rossi, Salvatore;
- Sabino, Andrea;
- Servidei, Serenella;
- Sabatelli, Mario;
- Primiano, Guido
Publication type:
journal article
A voxel-based lesion symptom mapping analysis of chronic pain in multiple sclerosis.
Published in:
Neurological Sciences, 2021, v. 42, n. 5, p. 1941, doi. 10.1007/s10072-020-04745-3
By:
- Plantone, Domenico;
- Vollono, Catello;
- Pardini, Matteo;
- Primiano, Guido;
- Myftari, Virxhina;
- Vitetta, Francesca;
- Sola, Patrizia;
- Mirabella, Massimiliano;
- Ferraro, Diana
Publication type:
Article
Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.
Published in:
Neurological Sciences, 2021, v. 42, n. 4, p. 1549, doi. 10.1007/s10072-020-04937-x
By:
- Tiberi, Eloisa;
- Costa, Simonetta;
- De Rose, Domenico Umberto;
- Romeo, Domenico Marco;
- Primiano, Guido;
- Gaudino, Simona;
- Servidei, Serenella;
- Mercuri, Eugenio;
- Vento, Giovanni
Publication type:
Article
Systematic assessment and characterization of chronic pain in multiple sclerosis patients.
Published in:
2018
By:
- Ferraro, Diana;
- Plantone, Domenico;
- Morselli, Franca;
- Dallari, Giulia;
- Simone, Anna M.;
- Vitetta, Francesca;
- Sola, Patrizia;
- Primiano, Guido;
- Nociti, Viviana;
- Pardini, Matteo;
- Mirabella, Massimiliano;
- Vollono, Catello
Publication type:
journal article
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
Serum Inflammatory Profile in Hereditary Transthyretin Amyloidosis: Mechanisms and Possible Therapeutic Implications.
Published in:
Brain Sciences (2076-3425), 2022, v. 12, n. 12, p. 1708, doi. 10.3390/brainsci12121708
By:
- Luigetti, Marco;
- Romano, Angela;
- Guglielmino, Valeria;
- Sciarrone, Maria Ausilia;
- Vitali, Francesca;
- Carbone, Carmine;
- Piro, Geny;
- Sabino, Andrea;
- De Stefano, Nicola;
- Plantone, Domenico;
- Primiano, Guido
Publication type:
Article
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
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
Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases.
Published in:
Journal of Personalized Medicine, 2023, v. 13, n. 9, p. 1329, doi. 10.3390/jpm13091329
By:
- Cadoni, Gabriella;
- Primiano, Guido;
- Picciotti, Pasqualina M.;
- Calandrelli, Rosalinda;
- Galli, Jacopo;
- Servidei, Serenella;
- Conti, Guido
Publication type:
Article
Migraine in mitochondrial disorders: Prevalence and characteristics.
Published in:
2018
By:
- Vollono, Catello;
- Primiano, Guido;
- Marca, Giacomo Della;
- Losurdo, Anna;
- Servidei, Serenella;
- Della Marca, Giacomo
Publication type:
journal article
Serum neurofilament light chain and small fiber neuropathy: Every cloud has a silver lining.
Published in:
European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16244
By:
- Plantone, Domenico;
- Primiano, Guido
Publication type:
Article
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
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?
Published in:
European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16070
By:
- Romano, Angela;
- Primiano, Guido;
- Antonini, Giovanni;
- Ceccanti, Marco;
- Fenu, Silvia;
- Forcina, Francesca;
- Gentile, Luca;
- Inghilleri, Maurizio;
- Leonardi, Luca;
- Manganelli, Fiore;
- Obici, Laura;
- Sabino, Andrea;
- Sciarrone, Maria Ausilia;
- Tozza, Stefano;
- Vitali, Francesca;
- Luigetti, Marco
Publication type:
Article
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
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
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
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
Current Evidence Supporting the Role of Immune Response in ATTRv Amyloidosis.
Published in:
Cells (2073-4409), 2023, v. 12, n. 19, p. 2383, doi. 10.3390/cells12192383
By:
- Plantone, Domenico;
- Primiano, Guido;
- Righi, Delia;
- Romano, Angela;
- Luigetti, Marco;
- De Stefano, Nicola
Publication type:
Article
Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study.
Published in:
Genes, 2021, v. 12, n. 11, p. 1786, doi. 10.3390/genes12111786
By:
- Primiano, Guido;
- Verdolotti, Tommaso;
- D'Apolito, Gabriella;
- Di Paolantonio, Andrea;
- Guglielmino, Valeria;
- Romano, Angela;
- Lucioli, Gabriele;
- Luigetti, Marco;
- Servidei, Serenella
Publication type:
Article
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Published in:
Genes, 2020, v. 11, n. 12, p. 1522, doi. 10.3390/genes11121522
By:
- Gervasoni, Jacopo;
- Primiano, Aniello;
- Marini, Federico;
- Sabino, Andrea;
- Biancolillo, Alessandra;
- Calvani, Riccardo;
- Picca, Anna;
- Marzetti, Emanuele;
- Persichilli, Silvia;
- Urbani, Andrea;
- Servidei, Serenella;
- Primiano, Guido
Publication type:
Article
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
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Published in:
Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00619
By:
- Strafella, Claudia;
- Campoli, Giulia;
- Galota, Rosaria Maria;
- Caputo, Valerio;
- Pagliaroli, Giulia;
- Carboni, Stefania;
- Zampatti, Stefania;
- Peconi, Cristina;
- Mela, Julia;
- Sancricca, Cristina;
- Primiano, Guido;
- Minozzi, Giulietta;
- Servidei, Serenella;
- Cascella, Raffaella;
- Giardina, Emiliano
Publication type:
Article
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
Published in:
Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
By:
- Musumeci, Olimpia;
- Barca, Emanuele;
- Lamperti, Costanza;
- Servidei, Serenella;
- Comi, Giacomo Pietro;
- Moggio, Maurizio;
- Mongini, Tiziana;
- Siciliano, Gabriele;
- Filosto, Massimiliano;
- Pegoraro, Elena;
- Primiano, Guido;
- Ronchi, Dario;
- Vercelli, Liliana;
- Orsucci, Daniele;
- Bello, Luca;
- Zeviani, Massimo;
- Mancuso, Michelangelo;
- Toscano, Antonio
Publication type:
Article
Intestinal pseudo-obstruction in mitochondrial diseases.
Published in:
2017
By:
- Primiano, Guido;
- Servidei, Serenella
Publication type:
Letter
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
Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement.
Published in:
Neurology & Therapy, 2025, v. 14, n. 1, p. 71, doi. 10.1007/s40120-024-00696-5
By:
- Guglielmino, Valeria;
- Vitali, Francesca;
- Romano, Angela;
- Primiano, Guido;
- Sciarrone, Maria Ausilia;
- Luigetti, Marco
Publication type:
Article
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
Sleep Disorders in Mitochondrial Diseases.
Published in:
Current Neurology & Neuroscience Reports, 2021, v. 21, n. 7, p. 1, doi. 10.1007/s11910-021-01121-2
By:
- Brunetti, Valerio;
- Della Marca, Giacomo;
- Servidei, Serenella;
- Primiano, Guido
Publication type:
Article
Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4855, doi. 10.3390/ijms25094855
By:
- Gervasoni, Jacopo;
- Primiano, Aniello;
- Cicchinelli, Michela;
- Santucci, Lavinia;
- Servidei, Serenella;
- Urbani, Andrea;
- Primiano, Guido;
- Iavarone, Federica
Publication type:
Article
Serum Neurofilament and Free Light Chain Levels in Patients Undergoing Treatment for Chronic Inflammatory Demyelinating Polyneuropathy.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1254, doi. 10.3390/ijms25021254
By:
- Luigetti, Marco;
- Primiano, Guido;
- Basile, Valerio;
- Vitali, Francesca;
- Pignalosa, Stefano;
- Romano, Angela;
- Sabino, Andrea;
- Marino, Mariapaola;
- Di Santo, Riccardo;
- Ciasca, Gabriele;
- Basile, Umberto
Publication type:
Article
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
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
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
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Published in:
Molecules, 2022, v. 27, n. 11, p. 3494, doi. 10.3390/molecules27113494
By:
- Tragni, Vincenzo;
- Primiano, Guido;
- Tummolo, Albina;
- Cafferati Beltrame, Lucas;
- La Piana, Gianluigi;
- Sgobba, Maria Noemi;
- Cavalluzzi, Maria Maddalena;
- Paterno, Giulia;
- Gorgoglione, Ruggiero;
- Volpicella, Mariateresa;
- Guerra, Lorenzo;
- Marzulli, Domenico;
- Servidei, Serenella;
- De Grassi, Anna;
- Petrosillo, Giuseppe;
- Lentini, Giovanni;
- Pierri, Ciro Leonardo
Publication type:
Article
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00564
By:
- Piano, Carla;
- Di Stasio, Enrico;
- Primiano, Guido;
- Janiri, Delfina;
- Luigetti, Marco;
- Frisullo, Giovanni;
- Vollono, Catello;
- Lucchini, Matteo;
- Brunetti, Valerio;
- Monforte, Mauro;
- Guglielmi, Valeria;
- Della Marca, Giacomo;
- Evoli, Amelia;
- Marra, Camillo;
- Mirabella, Massimiliano;
- Quaranta, Davide;
- Ricci, Enzo;
- Servidei, Serenella;
- Silvestri, Gabriella;
- Bellavia, Simone
Publication type:
Article
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00300
By:
- Modoni, Anna;
- D'Amico, Adele;
- Primiano, Guido;
- Capozzoli, Fiorentino;
- Desaphy, Jean-François;
- Lo Monaco, Mauro
Publication type:
Article
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
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
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
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.
Published in:
Journal of Neurology, 2018, v. 265, n. 3, p. 542, doi. 10.1007/s00415-018-8741-y
By:
- Monforte, Mauro;
- Primiano, Guido;
- Silvestri, Gabriella;
- Mirabella, Massimiliano;
- Luigetti, Marco;
- Cuccagna, Cristina;
- Ricci, Enzo;
- Servidei, Serenella;
- Tasca, Giorgio
Publication type:
Article
'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
Author response: A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 8, doi. 10.1002/jimd.12333
By:
- Primiano, Guido;
- Servidei, Serenella
Publication type:
Article
A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 4, doi. 10.1002/jimd.12328
By:
- Primiano, Guido;
- Servidei, Serenella
Publication type:
Article
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
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Published in:
2021
By:
- Ardissone, Anna;
- Bruno, Claudio;
- Diodato, Daria;
- Donati, Alice;
- Ghezzi, Daniele;
- Lamantea, Eleonora;
- Lamperti, Costanza;
- Mancuso, Michelangelo;
- Martinelli, Diego;
- Primiano, Guido;
- Procopio, Elena;
- Rubegni, Anna;
- Santorelli, Filippo;
- Schiaffino, Maria Cristina;
- Servidei, Serenella;
- Tubili, Flavia;
- Bertini, Enrico;
- Moroni, Isabella
Publication type:
journal article