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Titolo Data di pubblicazione Autore(i) File
Muscular involvement in Whipple's disease with gastrointestinal sparing 2010 Vercelli, L.; Palmucci, L.; Vittonatto, E.; Chiadò-Piat, L.; Fenollar, F.; Mongini, T.
Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. 2008 CP TREVISAN; E PASTORELLO; M ERMANI; C ANGELINI; G TOMELLERI; P TONIN; T MONGINI; L. PALMUCCI; G GALLUZZI; RG TUPLER; G MARIONI; A RIMINI
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 2007 BENEDETTI S; MENDITTO I; DEGANO M; RODOLICO C; MERLINI L; D'AMICO A; L. PALMUCCI; BERARDINELLI A; PEGORARO E; TREVISAN CP; MORANDI L; MORONI I; GALLUZZI G; BERTINI E; TOSCANO A; OLIVÈ M; BONNE G; MARI F; CALDARA R; FAZIO R; MAMMÌ I; CARRERA P; TONIOLO D; COMI G; QUATTRINI A; FERRARI M; PREVITALI SC
Myelin involvement in Niemann-Pick disease type A 2007 B Votta; M. Piccinini; S Grifoni; L Palmucci; A Heape; B Buccinnà; MT Rinaudo; MT Giordana
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 2006 CP TREVISAN; E PASTORELLO; M ARMANI; C ANGELINI; G NANTE; G TOMELLERI; P TONIN; T MONGINI; L. PALMUCCI; G GALLUZZI; RG TUPLER; A BARCHITTA
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment 2006 L. VERCELLI; T. MONGINI; N. OLIVERO; C. RODOLICO; O. MUSUMECI; L. PALMUCCI
Malattie mitocondriali 2006 T Mongini; L Palmucci
SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy 2006 Tomelleri G; Palmucci L; Tonin P; Mongini T; Marini M; L'Erario R; Rizzuto N; Vattemi G
Multidiscliplinary approach to cause and pathogenesis of an adult onset autosomal dominant orthochromatic leukodystrophy 2005 MT Giordana; L Palmucci; C D’Agostino; M Piccinini; A Brusco; MT Rinaudo
Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy 2005 Maria Teresa Giordana; Marco Piccinini; Laura Palmucci; Barbara Buccinnà; Cristina Ramondetti; Alfredo Brusco;Tiziana Mongini;Sabrina Leombruni;Giovanna Vaula;Maria Teresa Rinaudo
La distrofia muscolare oculo-faringea: caratteristiche cliniche e genetiche 2004 MONGINI T; SERVIDEI S; MIRABELLA M; VERCELLI L; MUTANI R; PALMUCCI L
Glycogen storage disease type II diagnosed in a 74-year-old woman 2004 BOSONE I; VERCELLI L; MONGINI T; CHIADÓ-PIAT L; VITTONATTO E; PALMUCCI L; SERVIDEI S; SILVESTRI G
Myelin-associated glycoprotein is defective in a familial orthochromatic leukodystrophy 2004 Giordana MT; Palmucci L; Piccinini M; Ramondetti C; Rinaudo MT
Myelin-associated glycoprotein is altered in a familial orthochromatic leukodystrophy 2004 Giordana MT; Palmucci L; Leombruni S; Vaula G; D'Agostino C; Piccinini M; Buccinnà B; Ramondetti C; Rinaudo MT
Myelin-associated glycoprotein is defective in a familail orthochromatic leukodystrophy 2004 Giordana MT; Palmucci L; Piccinini M; Buccinnà B; Ramondetti C; Rinaudo MT
A defective L_MAG (large myelin-associated glycoprotein) is responsible for an adult-onset autosomal dominant orthochromatic leukodystrophy 2004 Giordana MT; Palmucci L; Piccinini M; Buccinnà B; Ramondetti C; Rinaudo MT
X-linked Charcot-Marie-Tooth polyneuropathy due to mutation of the connexin-32 gene: revision of our cases of genetic neuropathies and identification of three affected families. 2003 Vercelli M; Mongini T; Pasini B; Cocito D; Benna P; Benetton G; Mutani R; Palmucci L.
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy 2002 BOSONE I; MONGINI T; DORIGUZZI C; VERCELLI L; TUPLER R; MORTARA P; L. PALMUCCI
Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 2002 WU FF; RYAN A; DEVANEY J; WARNSTEDT M; KORADE-MIRNICS Z; POSER B; ESCRIVA MJ; PEGORARO E; YEE AS; FELICE KJ; GIULIANI MJ; MAYER RF; MONGINI T; PALMUCCI L; MARINO M; RÜDEL R; HOFFMAN EP; FAHLKE C
Abnormal ubiquitination of axons in normally myelinated white matter in multiple sclerosis brain. 2002 M. GIORDANA; RICHIARDI P; TREVISAN E; BOGHI A; PALMUCCI L
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