Sfoglia per Autore
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche
2004-01-01 MONGINI T; SERVIDEI S; MIRABELLA M; VERCELLI L; MUTANI R; PALMUCCI L
Muscular involvement in Whipple's disease with gastrointestinal sparing
2010-01-01 Vercelli, L.; Palmucci, L.; Vittonatto, E.; Chiadò-Piat, L.; Fenollar, F.; Mongini, T.
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors
2011-01-01 Vercelli, L; Benedetti, S; Vittonatto, E; Chiado'-Piat, L; Pilati, E; Pinessi, L; Mongini, T
A case of to treatment with piridostigmine bromide: a new phenotype?
2011-01-01 L. Vercelli; S. Benedetti; E. Vittonatto ; L. Chiadò-Piat; E. Pilati; T. Mongini.
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years.
2011-01-01 T. Mongini; L. Vercelli; L. Chiadò-Piat; E. Vittonatto
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy
2012-01-01 Giobbe, Ml; Vercelli, L; Vittonatto, E; Chiadò-Piat, L; Roccatello, D; Pinessi, L; Mongini, T
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation
2012-01-01 Vercelli, L; Vittonatto, E; Grifoni, S; Chiadò-Piat, L; Rolle, E; Spada, M; Danesino, C; Comi, G; Pinessi, L; Mongini, T
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2.
2012-01-01 L. Vercelli; E. Vittonatto ; S. Grifoni; L. Chiado-Piat; M. Spada; C. Danesino; G. Comi; T. Mongini.
Measuring quality of life impairment in skeletal muscle channelopathies.
2012-01-01 Sansone, Va; Ricci, C; Montanari, M; Apolone, G; Rose, M; Meola, G; Panzer, M; Angelini, C; Palmieri, A; Siciliano, G; Volpi, L; Falorni, M; Mongini, T; Vercelli, L; Politano, L; Tozza, S; Solimene, C; Massa, R; Panico, Mb; Pisani, V; Grandi, M; Toscano, A; Musumeci, O; Rodolico, C
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
2013-01-01 Mancuso M;Orsucci D;Angelini C;Bertini E;Carelli V;Comi GP;Minetti C;Moggio M;Mongini T;Servidei S;Tonin P;Toscano A;Uziel G;Bruno C;Ienco EC;Filosto M;Lamperti C;Martinelli D;Moroni I;Musumeci O;Pegoraro E;Ronchi D;Santorelli FM;Sauchelli D;Scarpelli M;Sciacco M;Spinazzi M;Valentino ML;Vercelli L;Zeviani M;Siciliano G
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.
2013-01-01 Spada M;Porta F;Vercelli L;Pagliardini V;Chiadò-Piat L;Boffi P;Pagliardini S;Remiche G;Ronchi D;Comi G;Mongini T
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
2013-01-01 Ricci G;Scionti I;Sera F;Govi M;D'Amico R;Frambolli I;Mele F;Filosto M;Vercelli L;Ruggiero L;Berardinelli A;Angelini C;Antonini G;Bucci E;Cao M;Daolio J;Di Muzio A;Di Leo R;Galluzzi G;Iannaccone E;Maggi L;Maruotti V;Moggio M;Mongini T;Morandi L;Nikolic A;Pastorello E;Ricci E;Rodolico C;Santoro L;Servida M;Siciliano G;Tomelleri G;Tupler R
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
2013-01-01 Mancuso M;Orsucci D;Angelini C;Bertini E;Carelli V;Comi GP;Donati A;Minetti C;Moggio M;Mongini T;Servidei S;Tonin P;Toscano A;Uziel G;Bruno C;Ienco EC;Filosto M;Lamperti C;Catteruccia M;Moroni I;Musumeci O;Pegoraro E;Ronchi D;Santorelli FM;Sauchelli D;Scarpelli M;Sciacco M;Valentino ML;Vercelli L;Zeviani M;Siciliano G
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
2013-01-01 Tiziano FD;Lomastro R;Di Pietro L;Barbara Pasanisi M;Fiori S;Angelozzi C;Abiusi E;Angelini C;Sorarù G;Gaiani A;Mongini T;Vercelli L;Vasco G;Vita G;Luca Vita G;Messina S;Politano L;Passamano L;Di Gregorio G;Montomoli C;Orsi C;Campanella A;Mantegazza R;Morandi L
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2).
2014-01-01 L. Vercelli; V. Ponzalino; S. Bortolani; E. Vittonatto; S. Boschi; L. Chiadò-Piat; T Mongini.
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
2014-01-01 Maggi L;D'Amico A;Pini A;Sivo S;Pane M;Ricci G;Vercelli L;D'Ambrosio P;Travaglini L;Sala S;Brenna G;Kapetis D;Scarlato M;Pegoraro E;Ferrari M;Toscano A;Benedetti S;Bernasconi P;Colleoni L;Lattanzi G;Bertini E;Mercuri E;Siciliano G;Rodolico C;Mongini T;Politano L;Previtali SC;Carboni N;Mantegazza R;Morandi L
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS
2014-01-01 Bortolani, S.; Vercelli, L.; Ponzalino, V.; Boschi, S.; Vittonatto, E.; Chiadò-Piat, L.; Pinessi, L.; Mongini, T.
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes.
2014-01-01 Mongini, T.; Vercelli L.; Ponzalino V.; Bortolani S.; Boschi S.; Vittonatto E.; Chiadò-Piat L.
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes
2014-01-01 Bortolani, S; Vercelli, L; Ponzalino, V; Boschi, S; Vittonatto, E; Chiadò-Piat, L; Pinessi, L; Mongini, T
Myoclonus in mitochondrial disorders.
2014-01-01 Mancuso M;Orsucci D;Angelini C;Bertini E;Catteruccia M;Pegoraro E;Carelli V;Valentino ML;Comi GP;Minetti C;Bruno C;Moggio M;Ienco EC;Mongini T;Vercelli L;Primiano G;Servidei S;Tonin P;Scarpelli M;Toscano A;Musumeci O;Moroni I;Uziel G;Santorelli FM;Nesti C;Filosto M;Lamperti C;Zeviani M;Siciliano G
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche | 2004 | MONGINI T; SERVIDEI S; MIRABELLA M; VERCELLI L; MUTANI R; PALMUCCI L | |
Muscular involvement in Whipple's disease with gastrointestinal sparing | 2010 | Vercelli, L.; Palmucci, L.; Vittonatto, E.; Chiadò-Piat, L.; Fenollar, F.; Mongini, T. | |
A young boy with a new mutation in lamin A/C gene responsive to treatment with ACHE inhibitors | 2011 | Vercelli, L; Benedetti, S; Vittonatto, E; Chiado'-Piat, L; Pilati, E; Pinessi, L; Mongini, T | |
A case of to treatment with piridostigmine bromide: a new phenotype? | 2011 | L. Vercelli; S. Benedetti; E. Vittonatto ; L. Chiadò-Piat; E. Pilati; T. Mongini. | |
Young girl with relapsing- remitting hyperCKemia and limb·girdle weakness in the last ten years. | 2011 | T. Mongini; L. Vercelli; L. Chiadò-Piat; E. Vittonatto | |
Complete recovery in a severe case of anti-ssa positive necrotizing myopathy after rituximab therapy | 2012 | Giobbe, Ml; Vercelli, L; Vittonatto, E; Chiadò-Piat, L; Roccatello, D; Pinessi, L; Mongini, T | |
Late-onset glycogen storage disease type II: therapeutical indications in a subset of paucisymptomatic patients with a single mutation | 2012 | Vercelli, L; Vittonatto, E; Grifoni, S; Chiadò-Piat, L; Rolle, E; Spada, M; Danesino, C; Comi, G; Pinessi, L; Mongini, T | |
Symptomatic heterozygous patients in late-onset glycogen storage disease type 2. | 2012 | L. Vercelli; E. Vittonatto ; S. Grifoni; L. Chiado-Piat; M. Spada; C. Danesino; G. Comi; T. Mongini. | |
Measuring quality of life impairment in skeletal muscle channelopathies. | 2012 | Sansone, Va; Ricci, C; Montanari, M; Apolone, G; Rose, M; Meola, G; Panzer, M; Angelini, C; Palmieri, A; Siciliano, G; Volpi, L; Falorni, M; Mongini, T; Vercelli, L; Politano, L; Tozza, S; Solimene, C; Massa, R; Panico, Mb; Pisani, V; Grandi, M; Toscano, A; Musumeci, O; Rodolico, C | |
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. | 2013 | Mancuso M;Orsucci D;Angelini C;Bertini E;Carelli V;Comi GP;Minetti C;Moggio M;Mongini T;Servidei S;Tonin P;Toscano A;Uziel G;Bruno C;Ienco EC;Filosto M;Lamperti C;Martinelli D;Moroni I;Musumeci O;Pegoraro E;Ronchi D;Santorelli FM;Sauchelli D;Scarpelli M;Sciacco M;Spinazzi M;Valentino ML;Vercelli L;Zeviani M;Siciliano G | |
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia. | 2013 | Spada M;Porta F;Vercelli L;Pagliardini V;Chiadò-Piat L;Boffi P;Pagliardini S;Remiche G;Ronchi D;Comi G;Mongini T | |
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. | 2013 | Ricci G;Scionti I;Sera F;Govi M;D'Amico R;Frambolli I;Mele F;Filosto M;Vercelli L;Ruggiero L;Berardinelli A;Angelini C;Antonini G;Bucci E;Cao M;Daolio J;Di Muzio A;Di Leo R;Galluzzi G;Iannaccone E;Maggi L;Maruotti V;Moggio M;Mongini T;Morandi L;Nikolic A;Pastorello E;Ricci E;Rodolico C;Santoro L;Servida M;Siciliano G;Tomelleri G;Tupler R | |
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? | 2013 | Mancuso M;Orsucci D;Angelini C;Bertini E;Carelli V;Comi GP;Donati A;Minetti C;Moggio M;Mongini T;Servidei S;Tonin P;Toscano A;Uziel G;Bruno C;Ienco EC;Filosto M;Lamperti C;Catteruccia M;Moroni I;Musumeci O;Pegoraro E;Ronchi D;Santorelli FM;Sauchelli D;Scarpelli M;Sciacco M;Valentino ML;Vercelli L;Zeviani M;Siciliano G | |
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. | 2013 | Tiziano FD;Lomastro R;Di Pietro L;Barbara Pasanisi M;Fiori S;Angelozzi C;Abiusi E;Angelini C;Sorarù G;Gaiani A;Mongini T;Vercelli L;Vasco G;Vita G;Luca Vita G;Messina S;Politano L;Passamano L;Di Gregorio G;Montomoli C;Orsi C;Campanella A;Mantegazza R;Morandi L | |
Role of autophagy in an asymptomatic young woman with late-onset glycogen storage disease type 2 (GSD2). | 2014 | L. Vercelli; V. Ponzalino; S. Bortolani; E. Vittonatto; S. Boschi; L. Chiadò-Piat; T Mongini. | |
LMNA-associated myopathies: the Italian experience in a large cohort of patients. | 2014 | Maggi L;D'Amico A;Pini A;Sivo S;Pane M;Ricci G;Vercelli L;D'Ambrosio P;Travaglini L;Sala S;Brenna G;Kapetis D;Scarlato M;Pegoraro E;Ferrari M;Toscano A;Benedetti S;Bernasconi P;Colleoni L;Lattanzi G;Bertini E;Mercuri E;Siciliano G;Rodolico C;Mongini T;Politano L;Previtali SC;Carboni N;Mantegazza R;Morandi L | |
MC ARDLE DISEASE (GLYCOGENOSIS TYPE 5): LONG TERM FOLLOW UP IN A SMALL COHORT OF ITALIAN PATIENTS | 2014 | Bortolani, S.; Vercelli, L.; Ponzalino, V.; Boschi, S.; Vittonatto, E.; Chiadò-Piat, L.; Pinessi, L.; Mongini, T. | |
Muscle biopsy study in ten cases of lamin a/c mutation with different phenotypes. | 2014 | Mongini, T.; Vercelli L.; Ponzalino V.; Bortolani S.; Boschi S.; Vittonatto E.; Chiadò-Piat L. | |
Multifactorial analysis of muscle involvement in twenty cases of laminopathies with different phenotypes | 2014 | Bortolani, S; Vercelli, L; Ponzalino, V; Boschi, S; Vittonatto, E; Chiadò-Piat, L; Pinessi, L; Mongini, T | |
Myoclonus in mitochondrial disorders. | 2014 | Mancuso M;Orsucci D;Angelini C;Bertini E;Catteruccia M;Pegoraro E;Carelli V;Valentino ML;Comi GP;Minetti C;Bruno C;Moggio M;Ienco EC;Mongini T;Vercelli L;Primiano G;Servidei S;Tonin P;Scarpelli M;Toscano A;Musumeci O;Moroni I;Uziel G;Santorelli FM;Nesti C;Filosto M;Lamperti C;Zeviani M;Siciliano G |
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