Sfoglia per Autore
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
2005-01-01 VAN KUILENBURG A.B; MEINSMA R; BEKE E; BOBBA B; BOFFI P; ENNS G.M; WITT D.R; DOBRITZSC D
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study
2006-01-01 MERCURI E; MESSINA S; BATTINI R; BERARDINELLI A; BOFFI P; BONO R; BRUNO C; CARBONI N; CINI C; COLITTO F; D'AMICO A; MINETTI C; MIRABELLA M; MONGINI T; MORANDI L; DLAMINI N; ORCESI S; PELLICCIONI M; PANE M; PINI A; SWAN A.V; VILLANOVA M; VITA G; MAIN M; MUNTONI F; BERTINI E
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study
2007-01-01 TIZIANO FD; BERTINI E; MESSINA S; ANGELOZZI C; PANE M; D'AMICO A; ALFIERI P; FIORI S; BATTINI R; BERARDINELLI A; BOFFI P; BRUNO C; CINI C; MINETTI C; MONGINI T; MORANDI L; ORCESI S; PELLICCIONI M; PINI A; VILLANOVA M; VITA G; LOCATELLI M; MERCURI E; BRAHE C
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
2007-01-01 MERCURI E; BERTINI E; MESSINA S; SOLARI A; D'AMICO A; ANGELOZZI C; BATTINI R; BERARDINELLI A; BOFFI P; BRUNO C; CINI C; COLITTO F; KINALI M; MINETTI C; MONGINI T; MORANDI L; NERI G; ORCESI S; PANE M; PELLICCIONI M; PINI A; TIZIANO FD; VILLANOVA M; VITA G; BRAHE C
Rara sindrome da delezione di geni contigui: insufficienza surrenalica associata a ipertrigliceridemia ed elevazione delle creatinkinasi
2007-01-01 Russo MC; de Sanctis L; Einaudi S; Coppo E; Boffi P; Silvestro L
Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition
2008-01-01 de Sanctis L; Russo MC; Marinaccio C; Einaudi S; Agosta G; Coppo E; Boffi P; Silvestro L
Pediatria pratica - 8. edizione
2009-01-01 Bona G; Miniero R; Bignamini E; Boffi P; Canavese F; Coppo P; Ferrero F; Goria E; Haiting O; Martino S; Oderda G; Zaffaroni M; Peyron L
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
2009-01-01 Mercuri E; Messina S; Bruno C; Mora M; Pegoraro E; Comi GP; D'Amico A; Aiello C; Biancheri R; Berardinelli A; Boffi P; Cassandrini D; Laverda A; Moggio M; Morandi L; Moroni I; Pane M; Pezzani R; Pichiecchio A; Pini A; Minetti C; Mongini T; Mottarelli E; Ricci E; Ruggieri A; Saredi S; Scuderi C; Tessa A; Toscano A; Tortorella G; Trevisan CP; Uggetti C; Vasco G; Santorelli FM; Bertini E.
Congenital muscular dystrophies with cognitive impairment. A population study.
2010-01-01 Messina S; Bruno C; Moroni I; Pegoraro E; D'Amico A; Biancheri R; Berardinelli A; Boffi P; Cassandrini D; Farina L; Minetti C; Moggio M; Mongini T; Mottarelli E; Pane M; Pantaleoni C; Pichiecchio A; Pini A; Ricci E; Saredi S; Sframeli M; Tortorella G; Toscano A; Trevisan CP; Uggetti C; Vasco G; Comi GP; Santorelli FM; Bertini E; Mercuri E.
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
2012-01-01 Bello L; Piva L; Barp A; Taglia A; Picillo E; Vasco G; Pane M; Previtali SC; Torrente Y; Gazzerro E; Motta MC; Grieco GS; Napolitano S; Magri F; D'Amico A; Astrea G; Messina S; Sframeli M; Vita GL; Boffi P; Mongini T; Ferlini A; Gualandi F; Soraru' G; Ermani M; Vita G; Battini R; Bertini E; Comi GP; Berardinelli A; Minetti C; Bruno C; Mercuri E; Politano L; Angelini C; Hoffman EP; Pegoraro E.
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
2012-01-01 Eckart M; Guenther UP; Idkowiak J; Varon R; Grolle B; Boffi P; Van Maldergem L; Hübner C; Schuelke M; von Au K
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
A case of acute disseminated encephalomyelitis following influenza virus A-H1N1 infection
2013-01-01 Garazzino, S; Gabiano, C; Calitri, C; Zoppo, M; Scolfaro, C; Aguzzi, S; Boffi, P; Vigliano, N; Tovo, P A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function | 2005 | VAN KUILENBURG A.B; MEINSMA R; BEKE E; BOBBA B; BOFFI P; ENNS G.M; WITT D.R; DOBRITZSC D | |
| Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study | 2006 | MERCURI E; MESSINA S; BATTINI R; BERARDINELLI A; BOFFI P; BONO R; BRUNO C; CARBONI N; CINI C; COLITTO F; D'AMICO A; MINETTI C; MIRABELLA M; MONGINI T; MORANDI L; DLAMINI N; ORCESI S; PELLICCIONI M; PANE M; PINI A; SWAN A.V; VILLANOVA M; VITA G; MAIN M; MUNTONI F; BERTINI E | |
| The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study | 2007 | TIZIANO FD; BERTINI E; MESSINA S; ANGELOZZI C; PANE M; D'AMICO A; ALFIERI P; FIORI S; BATTINI R; BERARDINELLI A; BOFFI P; BRUNO C; CINI C; MINETTI C; MONGINI T; MORANDI L; ORCESI S; PELLICCIONI M; PINI A; VILLANOVA M; VITA G; LOCATELLI M; MERCURI E; BRAHE C | |
| Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy | 2007 | MERCURI E; BERTINI E; MESSINA S; SOLARI A; D'AMICO A; ANGELOZZI C; BATTINI R; BERARDINELLI A; BOFFI P; BRUNO C; CINI C; COLITTO F; KINALI M; MINETTI C; MONGINI T; MORANDI L; NERI G; ORCESI S; PANE M; PELLICCIONI M; PINI A; TIZIANO FD; VILLANOVA M; VITA G; BRAHE C | |
| Rara sindrome da delezione di geni contigui: insufficienza surrenalica associata a ipertrigliceridemia ed elevazione delle creatinkinasi | 2007 | Russo MC; de Sanctis L; Einaudi S; Coppo E; Boffi P; Silvestro L | |
| Cardiac arrest for adrenal insufficiency in a contiguous gene deletion syndrome at Xp21.3.21.2: The importance of a careful clinical monitoring and accurate genetic definition | 2008 | de Sanctis L; Russo MC; Marinaccio C; Einaudi S; Agosta G; Coppo E; Boffi P; Silvestro L | |
| Pediatria pratica - 8. edizione | 2009 | Bona G; Miniero R; Bignamini E; Boffi P; Canavese F; Coppo P; Ferrero F; Goria E; Haiting O; Martino S; Oderda G; Zaffaroni M; Peyron L | |
| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study | 2009 | Mercuri E; Messina S; Bruno C; Mora M; Pegoraro E; Comi GP; D'Amico A; Aiello C; Biancheri R; Berardinelli A; Boffi P; Cassandrini D; Laverda A; Moggio M; Morandi L; Moroni I; Pane M; Pezzani R; Pichiecchio A; Pini A; Minetti C; Mongini T; Mottarelli E; Ricci E; Ruggieri A; Saredi S; Scuderi C; Tessa A; Toscano A; Tortorella G; Trevisan CP; Uggetti C; Vasco G; Santorelli FM; Bertini E. | |
| Congenital muscular dystrophies with cognitive impairment. A population study. | 2010 | Messina S; Bruno C; Moroni I; Pegoraro E; D'Amico A; Biancheri R; Berardinelli A; Boffi P; Cassandrini D; Farina L; Minetti C; Moggio M; Mongini T; Mottarelli E; Pane M; Pantaleoni C; Pichiecchio A; Pini A; Ricci E; Saredi S; Sframeli M; Tortorella G; Toscano A; Trevisan CP; Uggetti C; Vasco G; Comi GP; Santorelli FM; Bertini E; Mercuri E. | |
| Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy | 2012 | Bello L; Piva L; Barp A; Taglia A; Picillo E; Vasco G; Pane M; Previtali SC; Torrente Y; Gazzerro E; Motta MC; Grieco GS; Napolitano S; Magri F; D'Amico A; Astrea G; Messina S; Sframeli M; Vita GL; Boffi P; Mongini T; Ferlini A; Gualandi F; Soraru' G; Ermani M; Vita G; Battini R; Bertini E; Comi GP; Berardinelli A; Minetti C; Bruno C; Mercuri E; Politano L; Angelini C; Hoffman EP; Pegoraro E. | |
| The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) | 2012 | Eckart M; Guenther UP; Idkowiak J; Varon R; Grolle B; Boffi P; Van Maldergem L; Hübner C; Schuelke M; von Au K | |
| 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 | |
| A case of acute disseminated encephalomyelitis following influenza virus A-H1N1 infection | 2013 | Garazzino, S; Gabiano, C; Calitri, C; Zoppo, M; Scolfaro, C; Aguzzi, S; Boffi, P; Vigliano, N; Tovo, P A |
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