Sfoglia per Autore
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
2019 Nicita, Francesco; Stregapede, Fabrizia; Tessa, Alessandra; Bassi, Maria Teresa; Jezela-Stanek, Aleksandra; Primiano, Guido Alessandro; 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
Drug-resistant epilepsy in MELAS: safety and potential efficacy of lacosamide
2018 Primiano, Guido Alessandro; Vollono, Catello; Dono, Fedele; Servidei, Serenella
Migraine in mitochondrial disorders: Prevalence and characteristics
2018 Vollono, Catello; Primiano, Guido Alessandro; Della Marca, Giacomo; Losurdo, Anna; Servidei, Serenella
Epilepsy management in mitochondrial diseases
2018 Primiano, Guido Alessandro; Vollono, Catello; Dono, Fedele; Servidei, Serenella
Drug-resistant epilepsy in MELAS: safety and potential efficacy of lacosamide
2018 Primiano, Guido; Vollono, Catello; Dono, Fedele; Servidei, Serenella
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
2018 Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido Alessandro; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Yahya Vahidi Mehrjardi, Mohammad; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M.; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Azizi Malamiri, Reza; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R.; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Reza Shariati, Gholam; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort
2018 Monforte, Mauro; Primiano, Guido Alessandro; Silvestri, Gabriella; Mirabella, Massimiliano; Luigetti, Marco; Cuccagna, Cristina; Ricci, Enzo; Servidei, Serenella; Tasca, Giorgio
Small fibre neuropathy in mitochondrial diseases explored with sudoscan
2018 Luigetti, Marco; Primiano, Guido; Cuccagna, Cristina; Bernardo, Daniela; Sauchelli, Donato; Vollono, Catello; Servidei, Serenella
Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation
2018 Bargagli, Matteo; Primiano, Guido Alessandro; Primiano, Aniello; Gervasoni, Jacopo; Naticchia, Alessandro; Servidei, Serenella; Gambaro, G; Ferraro, Pietro Manuel
Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre
2018 Luigetti, Marco; Bisogni, Giulia; Romano, Angela; Di Paolantonio, Andrea; Barbato, Francesco; Primicerio, Giulia; Rossini, Paolo Maria; Servidei, Serenella; Sabatelli, Mario
Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy
2018 Luigetti, Marco; Primiano, Guido Alessandro; Bisogni, Giulia; Cuccagna, Cristina; Carrozzo, Rosalba; Obici, Laura; Bernardo, Daniela; Sancricca, Cristina; Servidei, Serenella
Reply to “Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies”
2018 Luigetti, Marco; Primiano, Guido Alessandro; Servidei, Serenella
Nutritional support in mitochondrial diseases: the state of the art
2018 Rinninella, Emanuele; Pizzoferrato, Marco; Cintoni, Marco; Servidei, Serenella; Mele, Maria Cristina
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
2017 Orsucci, D.; Angelini, C.; Bertini, E.; Carelli, V.; Comi, G. P.; Federico, A.; Minetti, C.; Moggio, M.; Mongini, T.; Santorelli, F. M.; Servidei, Serenella; Tonin, P.; Ardissone, A.; Bello, L.; Bruno, C.; Ienco, E. Caldarazzo; Diodato, D.; Filosto, M.; Lamperti, C.; Moroni, I.; Musumeci, O.; Pegoraro, E.; Primiano, Guido Alessandro; Ronchi, D.; Rubegni, A.; Salvatore, S.; Sciacco, M.; Valentino, M. L.; Vercelli, L.; Toscano, A.; Zeviani, M.; Siciliano, G.; Mancuso, M.
Recurrent miller fisher: a new case report and a literature review
2017 Barbato, Francesco; Di Paolantonio, Andrea; Distefano, M; Mastrorosa, Alessia; Sabatelli, Mario; Servidei, Serenella; Luigetti, Marco
To the Editor: Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement?
2017 Monforte, Mauro; Servidei, Serenella; Ricci, Enzo; Tasca, Giorgio
Intestinal pseudo-obstruction in mitochondrial diseases
2017 Primiano, Guido Alessandro; Servidei, Serenella
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16â 18 November 2016, Rome, Italy
2017 Mancuso, Michelangelo; Mcfarland, Robert; Klopstock, Thomas; Hirano, Michio; Artuch, Rafael; Bertini, Enrico Silvio; Bindoff, Laurence; Carelli, Valerio; Gorman, Grainne; Hirano, Michio; Horvath, Rita; Kaufmann, Petra; Klopstock, Thomas; Koga, Yasutoshi; Koene, Saskia; Lamperti, Costanza; Mcfarland, Robert; Mancuso, Michelangelo; Montoya, Julio; Javier Pérez-Mínguez Caneda, Francisco; Procaccio, Vincent; Prokisch, Holger; Rahman, Shamima; Santantonio, Piero; Schülke, Markus; Servidei, Serenella; Shungu, Dikoma C.; Siciliano, Gabriele; Smeitink, Jan; Taivassalo, Tanja; Thompson, John L. P.; Turnbull, Doug; Van der Veer, Elja; Yeske, Philip E.; Zeviani, Massimo
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction
2017 Pera, Maria Carmela; Luigetti, Marco; Pane, Marika; Coratti, Giorgia; Forcina, Nicola; Fanelli, Lavinia; Mazzone, Elena Stacy; Antonaci, Laura; Lapenta, Leonardo; Palermo, Concetta; Ranalli, Domiziana; Granata, Giuseppe; Lomonaco, Mauro; Servidei, Serenella; Mercuri, Eugenio Maria
Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience
2016 Luigetti, Marco; Sauchelli, Donato; Primiano, Guido Alessandro; Cuccagna, Cristina; Bernardo, Daniela; Lo Monaco, Mauro; Servidei, Serenella
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2019 | Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants | Nicita, Francesco; Stregapede, Fabrizia; Tessa, Alessandra; Bassi, Maria Teresa; Jezela-Stanek, Aleksandra; Primiano, Guido Alessandro; 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 | |
1-gen-2018 | Drug-resistant epilepsy in MELAS: safety and potential efficacy of lacosamide | Primiano, Guido Alessandro; Vollono, Catello; Dono, Fedele; Servidei, Serenella | |
1-gen-2018 | Migraine in mitochondrial disorders: Prevalence and characteristics | Vollono, Catello; Primiano, Guido Alessandro; Della Marca, Giacomo; Losurdo, Anna; Servidei, Serenella | |
1-gen-2018 | Epilepsy management in mitochondrial diseases | Primiano, Guido Alessandro; Vollono, Catello; Dono, Fedele; Servidei, Serenella | |
1-gen-2018 | Drug-resistant epilepsy in MELAS: safety and potential efficacy of lacosamide | Primiano, Guido; Vollono, Catello; Dono, Fedele; Servidei, Serenella | |
1-gen-2018 | Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration | Muto, Valentina; Flex, Elisabetta; Kupchinsky, Zachary; Primiano, Guido Alessandro; Galehdari, Hamid; Dehghani, Mohammadreza; Cecchetti, Serena; Carpentieri, Giovanna; Rizza, Teresa; Mazaheri, Neda; Sedaghat, Alireza; Yahya Vahidi Mehrjardi, Mohammad; Traversa, Alice; Di Nottia, Michela; Kousi, Maria M.; Jamshidi, Yalda; Ciolfi, Andrea; Caputo, Viviana; Azizi Malamiri, Reza; Pantaleoni, Francesca; Martinelli, Simone; Jeffries, Aaron R.; Zeighami, Jawaher; Sherafat, Amir; Di Giuda, Daniela; Reza Shariati, Gholam; Carrozzo, Rosalba; Katsanis, Nicholas; Maroofian, Reza; Servidei, Serenella; Tartaglia, Marco | |
1-gen-2018 | Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort | Monforte, Mauro; Primiano, Guido Alessandro; Silvestri, Gabriella; Mirabella, Massimiliano; Luigetti, Marco; Cuccagna, Cristina; Ricci, Enzo; Servidei, Serenella; Tasca, Giorgio | |
1-gen-2018 | Small fibre neuropathy in mitochondrial diseases explored with sudoscan | Luigetti, Marco; Primiano, Guido; Cuccagna, Cristina; Bernardo, Daniela; Sauchelli, Donato; Vollono, Catello; Servidei, Serenella | |
1-gen-2018 | Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation | Bargagli, Matteo; Primiano, Guido Alessandro; Primiano, Aniello; Gervasoni, Jacopo; Naticchia, Alessandro; Servidei, Serenella; Gambaro, G; Ferraro, Pietro Manuel | |
1-gen-2018 | Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre | Luigetti, Marco; Bisogni, Giulia; Romano, Angela; Di Paolantonio, Andrea; Barbato, Francesco; Primicerio, Giulia; Rossini, Paolo Maria; Servidei, Serenella; Sabatelli, Mario | |
1-gen-2018 | Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy | Luigetti, Marco; Primiano, Guido Alessandro; Bisogni, Giulia; Cuccagna, Cristina; Carrozzo, Rosalba; Obici, Laura; Bernardo, Daniela; Sancricca, Cristina; Servidei, Serenella | |
1-gen-2018 | Reply to “Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies” | Luigetti, Marco; Primiano, Guido Alessandro; Servidei, Serenella | |
1-gen-2018 | Nutritional support in mitochondrial diseases: the state of the art | Rinninella, Emanuele; Pizzoferrato, Marco; Cintoni, Marco; Servidei, Serenella; Mele, Maria Cristina | |
1-gen-2017 | Revisiting mitochondrial ocular myopathies: a study from the Italian Network | Orsucci, D.; Angelini, C.; Bertini, E.; Carelli, V.; Comi, G. P.; Federico, A.; Minetti, C.; Moggio, M.; Mongini, T.; Santorelli, F. M.; Servidei, Serenella; Tonin, P.; Ardissone, A.; Bello, L.; Bruno, C.; Ienco, E. Caldarazzo; Diodato, D.; Filosto, M.; Lamperti, C.; Moroni, I.; Musumeci, O.; Pegoraro, E.; Primiano, Guido Alessandro; Ronchi, D.; Rubegni, A.; Salvatore, S.; Sciacco, M.; Valentino, M. L.; Vercelli, L.; Toscano, A.; Zeviani, M.; Siciliano, G.; Mancuso, M. | |
1-gen-2017 | Recurrent miller fisher: a new case report and a literature review | Barbato, Francesco; Di Paolantonio, Andrea; Distefano, M; Mastrorosa, Alessia; Sabatelli, Mario; Servidei, Serenella; Luigetti, Marco | |
1-gen-2017 | To the Editor: Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement? | Monforte, Mauro; Servidei, Serenella; Ricci, Enzo; Tasca, Giorgio | |
1-gen-2017 | Intestinal pseudo-obstruction in mitochondrial diseases | Primiano, Guido Alessandro; Servidei, Serenella | |
1-gen-2017 | International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16â 18 November 2016, Rome, Italy | Mancuso, Michelangelo; Mcfarland, Robert; Klopstock, Thomas; Hirano, Michio; Artuch, Rafael; Bertini, Enrico Silvio; Bindoff, Laurence; Carelli, Valerio; Gorman, Grainne; Hirano, Michio; Horvath, Rita; Kaufmann, Petra; Klopstock, Thomas; Koga, Yasutoshi; Koene, Saskia; Lamperti, Costanza; Mcfarland, Robert; Mancuso, Michelangelo; Montoya, Julio; Javier Pérez-Mínguez Caneda, Francisco; Procaccio, Vincent; Prokisch, Holger; Rahman, Shamima; Santantonio, Piero; Schülke, Markus; Servidei, Serenella; Shungu, Dikoma C.; Siciliano, Gabriele; Smeitink, Jan; Taivassalo, Tanja; Thompson, John L. P.; Turnbull, Doug; Van der Veer, Elja; Yeske, Philip E.; Zeviani, Massimo | |
1-gen-2017 | 6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction | Pera, Maria Carmela; Luigetti, Marco; Pane, Marika; Coratti, Giorgia; Forcina, Nicola; Fanelli, Lavinia; Mazzone, Elena Stacy; Antonaci, Laura; Lapenta, Leonardo; Palermo, Concetta; Ranalli, Domiziana; Granata, Giuseppe; Lomonaco, Mauro; Servidei, Serenella; Mercuri, Eugenio Maria | |
1-gen-2016 | Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience | Luigetti, Marco; Sauchelli, Donato; Primiano, Guido Alessandro; Cuccagna, Cristina; Bernardo, Daniela; Lo Monaco, Mauro; Servidei, Serenella |
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