Sfoglia per Autore
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
2011-01-01 Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C.
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
2011-01-01 Bruno, C; Cassandrini, D; Fattori, F; Pedemonte, M; Fiorillo, C; Brigati, G; Brisca, G; Minetti, Carlo; Santorelli, Fm
Neuromuscular disorders in zebrafish: State of the art and future perspectives
2013-01-01 Pappalardo, A.; Pitto, L.; Fiorillo, C.; Alice Donati, M.; Bruno, C.; Santorelli, F. M.
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
2013-01-01 Fiorillo, Chiara; Brisca, G; Cassandrini, D; Scapolan, S; Astrea, G; Valle, M; Scuderi, F; Trucco, F; Natali, A; Magnano, G; Gazzerro, E; Minetti, Carlo; Arca, M; Santorelli, Fm; Bruno, C.
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis
2014-01-01 Tessa, Alessandra; Fiorillo, Chiara; De Grandis, Domenico; Astrea, Guja; Perazza, Silvia; Filla, Alessandro; Santorelli, Filippo M.
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
2014-01-01 Fiorillo, Chiara; Moro, F; Yi, J; Weil, S; Brisca, Giacomo; Astrea, G; Severino, M; Romano, A; Battini, R; Rossi, A; Minetti, Carlo; Bruno, C; Santorelli, Fm; Vallee, R.
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations
2014-01-01 Trovato, Rosanna; Astrea, Guja; Bartalena, Laura; Ghirri, Paolo; Baldacci, Jacopo; Giampietri, Matteo; Battini, Roberta; Santorelli, Filippo M.; Fiorillo, Chiara
Vaccination recommendations for patients with neuromuscular disease.
2014-01-01 Esposito, S; Bruno, C; Berardinelli, A; Filosto, M; Mongini, T; Morandi, L; Musumeci, O; Pegoraro, E; Siciliano, G; Tonin, P; Marrosu, G; Minetti, Carlo; Servida, M; Fiorillo, Chiara; Conforti, G; Scapolan, S; Ansaldi, Filippo; Vianello, A; Castaldi, S; Principi, N; Toscano, A; Moggio, M.
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation
2015-01-01 Brisca, G.; Fiorillo, C.; Nesti, C.; Trucco, F.; Derchi, M.; Andaloro, A.; Assereto, S.; Morcaldi, G.; Pedemonte, M.; Minetti, C.; Santorelli, F. M.; Bruno, C.
A rare mutation in MYH7 gene occurs with overlapping phenotype
2015-01-01 Ruggiero, L.; Fiorillo, C.; Gibertini, S.; De Stefano, F.; Manganelli, F.; Iodice, R.; Vitale, F.; Zanotti, S.; Galderisi, M.; Mora, M.; Santoro, L.
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.
2015-01-01 Gazzerro, E; Baldassari, S; Assereto, S; Fruscione, F; Pistorio, A; Panicucci, C; Volpi, S; Perruzza, L; Fiorillo, C; Minetti, C; Traggiai, E; Grassi, F; Bruno, C.
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
2015-01-01 Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C.
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
2015-01-01 Fattori, F.; Maggi, L.; Bruno, C.; Cassandrini, D.; Codemo, V.; Catteruccia, M.; Tasca, G.; Berardinelli, A.; Magri, F.; Pane, M.; Rubegni, A.; Santoro, L.; Ruggiero, L.; Fiorini, P.; Pini, A.; Mongini, T.; Messina, S.; Brisca, G.; Colombo, I.; Astrea, G.; Fiorillo, C.; Bragato, C.; Moroni, I.; Pegoraro, E.; D'Apice, M. R.; Alfei, E.; Mora, M.; Morandi, L.; Donati, A.; Evila, A.; Vihola, A.; Udd, B.; Bernansconi, P.; Mercuri, E.; Santorelli, F. M.; Bertini, E.; D'Amico, A.
Respiratory pattern in a FSHD pediatric population
2016-01-01 Trucco, Federica; Pedemonte, Marina; Fiorillo, Chiara; Tacchetti, Paola; Brisca, Giacomo; Bruno, Claudio; Minetti, Carlo
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
2016-01-01 Assereto, Stefania; Piccirillo, Rosanna; Baratto, Serena; Scudieri, Paolo; Fiorillo, Chiara; Massacesi, Manuela; Traverso, Monica; Galietta, LUIS JUAN VICENTE; Bruno, Claudio; Minetti, Carlo; Zara, Federico; Gazzerro, Elisabetta
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
2016-01-01 Bauché, Stéphanie; O'Regan, Seana; Azuma, Yoshiteru; Laffargue, Fanny; Mcmacken, Grace; Sternberg, Damien; Brochier, Guy; Buon, Céline; Bouzidi, Nassima; Topf, Ana; Lacène, Emmanuelle; Remerand, Ganaelle; Beaufrere, Anne-Marie; Pebrel-Richard, Céline; Thevenon, Julien; El Chehadeh-Djebbar, Salima; Faivre, Laurence; Duffourd, Yannis; Ricci, Federica; Mongini, Tiziana; Fiorillo, Chiara; Astrea, Guja; Burloiu, Carmen magdalena; Butoianu, Niculina; Sandu, Carmen; Servais, Laurent; Bonne, Gisèle; Nelson, Isabelle; Desguerre, Isabelle; Nougues, Marie-Christine; Bœuf, Benoit; Romero, Norma; Laporte, Jocelyn; Boland, Anne; Lechner, Doris; Deleuze, Jean-François; Fontaine, Bertrand; Strochlic, Laure; Lochmuller, Hanns; Eymard, Bruno; Mayer, Michèle; Nicole, Sophie
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease
2016-01-01 Covone, A. E; Fiorillo, Chiara; Acquaviva, M.; Trucco, Federica; Morana, Giovanni; Ravazzolo, Roberto; Minetti, Carlo
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients
2016-01-01 Fiorillo, Chiara; Astrea, G.; Savarese, M.; Cassandrini, D.; Brisca, G.; Trucco, F.; Pedemonte, M.; Trovato, R.; Ruggiero, L.; Vercelli, L.; D'Amico, ANNA MARIA; Tasca, G.; Pane, M.; Fanin, M.; Bello, L.; Broda, P.; Musumeci, O.; Rodolico, C.; Messina, S.; Vita, G. L.; Sframeli, M.; Gibertini, S.; Morandi, L.; Mora, M.; Maggi, L.; Petrucci, A.; Massa, R.; Grandis, Marina; Toscano, A.; Pegoraro, E.; Mercuri, E.; Bertini, E.; Mongini, T.; Santoro, L.; Nigro, V.; Minetti, Carlo; Santorelli, F. M.; Bruno, C.
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2
2016-01-01 Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.
2016-01-01 Papa, Riccardo; Madia, F; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, P; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. | 1-gen-2011 | Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C. | |
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene. | 1-gen-2011 | Bruno, C; Cassandrini, D; Fattori, F; Pedemonte, M; Fiorillo, C; Brigati, G; Brisca, G; Minetti, Carlo; Santorelli, Fm | |
Neuromuscular disorders in zebrafish: State of the art and future perspectives | 1-gen-2013 | Pappalardo, A.; Pitto, L.; Fiorillo, C.; Alice Donati, M.; Bruno, C.; Santorelli, F. M. | |
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. | 1-gen-2013 | Fiorillo, Chiara; Brisca, G; Cassandrini, D; Scapolan, S; Astrea, G; Valle, M; Scuderi, F; Trucco, F; Natali, A; Magnano, G; Gazzerro, E; Minetti, Carlo; Arca, M; Santorelli, Fm; Bruno, C. | |
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis | 1-gen-2014 | Tessa, Alessandra; Fiorillo, Chiara; De Grandis, Domenico; Astrea, Guja; Perazza, Silvia; Filla, Alessandro; Santorelli, Filippo M. | |
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. | 1-gen-2014 | Fiorillo, Chiara; Moro, F; Yi, J; Weil, S; Brisca, Giacomo; Astrea, G; Severino, M; Romano, A; Battini, R; Rossi, A; Minetti, Carlo; Bruno, C; Santorelli, Fm; Vallee, R. | |
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations | 1-gen-2014 | Trovato, Rosanna; Astrea, Guja; Bartalena, Laura; Ghirri, Paolo; Baldacci, Jacopo; Giampietri, Matteo; Battini, Roberta; Santorelli, Filippo M.; Fiorillo, Chiara | |
Vaccination recommendations for patients with neuromuscular disease. | 1-gen-2014 | Esposito, S; Bruno, C; Berardinelli, A; Filosto, M; Mongini, T; Morandi, L; Musumeci, O; Pegoraro, E; Siciliano, G; Tonin, P; Marrosu, G; Minetti, Carlo; Servida, M; Fiorillo, Chiara; Conforti, G; Scapolan, S; Ansaldi, Filippo; Vianello, A; Castaldi, S; Principi, N; Toscano, A; Moggio, M. | |
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation | 1-gen-2015 | Brisca, G.; Fiorillo, C.; Nesti, C.; Trucco, F.; Derchi, M.; Andaloro, A.; Assereto, S.; Morcaldi, G.; Pedemonte, M.; Minetti, C.; Santorelli, F. M.; Bruno, C. | |
A rare mutation in MYH7 gene occurs with overlapping phenotype | 1-gen-2015 | Ruggiero, L.; Fiorillo, C.; Gibertini, S.; De Stefano, F.; Manganelli, F.; Iodice, R.; Vitale, F.; Zanotti, S.; Galderisi, M.; Mora, M.; Santoro, L. | |
Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis. | 1-gen-2015 | Gazzerro, E; Baldassari, S; Assereto, S; Fruscione, F; Pistorio, A; Panicucci, C; Volpi, S; Perruzza, L; Fiorillo, C; Minetti, C; Traggiai, E; Grassi, F; Bruno, C. | |
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. | 1-gen-2015 | Biancheri, R; Lamantea, E; Severino, M; Diodato, D; Pedemonte, M; Cassandrini, D; Ploederl, A; Trucco, Federica; Fiorillo, Chiara; Minetti, Carlo; Santorelli, Fm; Zeviani, M; Bruno, C. | |
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort | 1-gen-2015 | Fattori, F.; Maggi, L.; Bruno, C.; Cassandrini, D.; Codemo, V.; Catteruccia, M.; Tasca, G.; Berardinelli, A.; Magri, F.; Pane, M.; Rubegni, A.; Santoro, L.; Ruggiero, L.; Fiorini, P.; Pini, A.; Mongini, T.; Messina, S.; Brisca, G.; Colombo, I.; Astrea, G.; Fiorillo, C.; Bragato, C.; Moroni, I.; Pegoraro, E.; D'Apice, M. R.; Alfei, E.; Mora, M.; Morandi, L.; Donati, A.; Evila, A.; Vihola, A.; Udd, B.; Bernansconi, P.; Mercuri, E.; Santorelli, F. M.; Bertini, E.; D'Amico, A. | |
Respiratory pattern in a FSHD pediatric population | 1-gen-2016 | Trucco, Federica; Pedemonte, Marina; Fiorillo, Chiara; Tacchetti, Paola; Brisca, Giacomo; Bruno, Claudio; Minetti, Carlo | |
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy | 1-gen-2016 | Assereto, Stefania; Piccirillo, Rosanna; Baratto, Serena; Scudieri, Paolo; Fiorillo, Chiara; Massacesi, Manuela; Traverso, Monica; Galietta, LUIS JUAN VICENTE; Bruno, Claudio; Minetti, Carlo; Zara, Federico; Gazzerro, Elisabetta | |
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea | 1-gen-2016 | Bauché, Stéphanie; O'Regan, Seana; Azuma, Yoshiteru; Laffargue, Fanny; Mcmacken, Grace; Sternberg, Damien; Brochier, Guy; Buon, Céline; Bouzidi, Nassima; Topf, Ana; Lacène, Emmanuelle; Remerand, Ganaelle; Beaufrere, Anne-Marie; Pebrel-Richard, Céline; Thevenon, Julien; El Chehadeh-Djebbar, Salima; Faivre, Laurence; Duffourd, Yannis; Ricci, Federica; Mongini, Tiziana; Fiorillo, Chiara; Astrea, Guja; Burloiu, Carmen magdalena; Butoianu, Niculina; Sandu, Carmen; Servais, Laurent; Bonne, Gisèle; Nelson, Isabelle; Desguerre, Isabelle; Nougues, Marie-Christine; Bœuf, Benoit; Romero, Norma; Laporte, Jocelyn; Boland, Anne; Lechner, Doris; Deleuze, Jean-François; Fontaine, Bertrand; Strochlic, Laure; Lochmuller, Hanns; Eymard, Bruno; Mayer, Michèle; Nicole, Sophie | |
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease | 1-gen-2016 | Covone, A. E; Fiorillo, Chiara; Acquaviva, M.; Trucco, Federica; Morana, Giovanni; Ravazzolo, Roberto; Minetti, Carlo | |
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients | 1-gen-2016 | Fiorillo, Chiara; Astrea, G.; Savarese, M.; Cassandrini, D.; Brisca, G.; Trucco, F.; Pedemonte, M.; Trovato, R.; Ruggiero, L.; Vercelli, L.; D'Amico, ANNA MARIA; Tasca, G.; Pane, M.; Fanin, M.; Bello, L.; Broda, P.; Musumeci, O.; Rodolico, C.; Messina, S.; Vita, G. L.; Sframeli, M.; Gibertini, S.; Morandi, L.; Mora, M.; Maggi, L.; Petrucci, A.; Massa, R.; Grandis, Marina; Toscano, A.; Pegoraro, E.; Mercuri, E.; Bertini, E.; Mongini, T.; Santoro, L.; Nigro, V.; Minetti, Carlo; Santorelli, F. M.; Bruno, C. | |
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 | 1-gen-2016 | Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo | |
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. | 1-gen-2016 | Papa, Riccardo; Madia, F; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, P; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara |
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