Sfoglia per Autore
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
2002-01-01 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
Atypical histopathological changes in muscle biopsies from two patients with facioscapulohumeral muscular dystrophy
2002-01-01 BOSONE I; MONGINI T; DORIGUZZI C; VERCELLI L; TUPLER R; MORTARA P; L. PALMUCCI
Paraneoplastic opsoclonus-myoclonus associated with renal cell carcinoma and responsive to tumour ablation
2001-01-01 VIGLIANI MC ;PALMUCCI L ;POLO P ;MUTANI R ;SCHIFFER D ;DE LUCA S ;DE ZAN A
Late onset and very mild course of Xp21 Becker type muscular dystrophy.
2001-01-01 BOSONE I; BORTOLOTTO S; MONGINI T; DORIGUZZI C; CHIAD-PIAT L; UGO I; MUTANI R; L. PALMUCCI
Myopathy in a patient with chromosome 22q11 deletion.
2001-01-01 MONGINI T; DORIGUZZI C; ARDUINO C; BRUSCO A; BORTOLOTTO S; MUTANI R; L. PALMUCCI
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency
2000-01-01 SILVESTRI G; MONGINI T; ODOARDI F; MODONI A; DEROSA G; DORIGUZZI C; L. PALMUCCI; TONALI P; SERVIDEI S
Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family.
2000-01-01 L. PALMUCCI; MONGINI T; CHIADÒ-PIAT L; DORIGUZZI C; FUBINI A
A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene
2000-01-01 PIRULLI D; ZEZLINA S; VATTA L; DI STEFANO P; BONIOTTO M; G. TARONE; MONGINI T; UGO I; PALMUCCI L; AMOROSO A; CROVELLA S
Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy.
1999-01-01 PALMUCCI L ;DORIGUZZI C ;MONGINI T ;CHIADÒ-PIAT L ;UGO I
Variable histological expression of dystrophinopathy in two females.
1999-01-01 DORIGUZZI C ;PALMUCCI L ;MONGINI T ;CHIADÒ-PIAT L ;SAGGIORATO C ;UGO I ;HOFFMAN EP
Systematic use of dystrophin testing in muscle biopsies: results in 201 cases.
1997-01-01 DORIGUZZI C ;PALMUCCI L ;MONGINI T ;CHIADÒ-PIAT L ; MANISCALCO M ;RESTAGNO G
Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease.
1997-01-01 MIGHELI A ;MONGINI T ;DORIGUZZI C ;CHIADÒ-PIAT L ;PIVA R ;UGO I ;PALMUCCI L
Quantitative and qualitative alterations of dystrophin are expressed in muscle cell cultures of Xp21 muscular dystrophy patients (Duchenne and Becker type).
1996-01-01 MONGINI T; DORIGUZZI C; PALMUCCI L; CHIADÒ-PIAT L
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child.
1995-01-01 RESTAGNO G ;FERRONE M ;DORIGUZZI C ;PALMUCCI L ;MONGINI T ;CARBONARA A
Metachromatic dye-Ca++ATPase method in pathological muscle: a study of 382 muscle biopsies.
1994-01-01 DORIGUZZI C ;PALMUCCI L ;MONGINI T ;MANISCALCO M ;CHIADÒ-PIAT L ;DE ANGELIS MS
Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene.
1994-01-01 PALMUCCI L; DORIGUZZI C; MONGINI T; RESTAGNO G; CHIADÒ-PIAT L; MANISCALCO M
Adult onset nemaline myopathy: a distinct nosologic entity?
1993-01-01 PALMUCCI L ;DORIGUZZI C ;MONGINI T ;CHIADÒ-PIAT L
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis.
1993-01-01 DORIGUZZI C ;PALMUCCI L ;MONGINI T ;BERTOLOTTO A ;MANISCALCO M ;CHIADÒ-PIAT L ;ZINA AM ;BUNDINO S
Clinical spectrum of McArdle disease: three cases with unusual expression.
1993-01-01 CHIADÒ-PIAT L ;MONGINI T ;DORIGUZZI C ;MANISCALCO M ;PALMUCCI L
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.
1993-01-01 DORIGUZZI C ;PALMUCCI L ;MONGINI T ;CHIADÒ-PIAT L ;RESTAGNO G ;FERRONE M
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