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Results: 1-25 | 26-50 | 51-59
Results: 1-25/59
PROTHROMBIN G20210A MUTANT GENOTYPE IS A RISK FACTOR FOR CEREBROVASCULAR ISCHEMIC DISEASE IN YOUNG-PATIENTS
Authors: DESTEFANO V CHIUSOLO P PACIARONI K CASORELLI I ROSSI E MOLINARI F SERVIDEI S TONALI PA LEONE G
Citation: V. Destefano et al., PROTHROMBIN G20210A MUTANT GENOTYPE IS A RISK FACTOR FOR CEREBROVASCULAR ISCHEMIC DISEASE IN YOUNG-PATIENTS, Blood, 91(10), 1998, pp. 3562-3565
IDENTIFICATION OF 5 NEW MUTATIONS AND 3 NOVEL POLYMORPHISMS IN THE MUSCLE CHLORIDE CHANNEL GENE (CLCN1) IN 20 ITALIAN PATIENTS WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA
Authors: SANGIUOLO F BOTTA A MESORACA A SERVIDEI S MERLINI L FRATTA G NOVELLI G DALLAPICCOLA B
Citation: F. Sangiuolo et al., IDENTIFICATION OF 5 NEW MUTATIONS AND 3 NOVEL POLYMORPHISMS IN THE MUSCLE CHLORIDE CHANNEL GENE (CLCN1) IN 20 ITALIAN PATIENTS WITH DOMINANT AND RECESSIVE MYOTONIA-CONGENITA, Human mutation, 11(4), 1998, pp. 331-331
A LATE-ONSET MITOCHONDRIAL MYOPATHY IS ASSOCIATED WITH A NOVEL MITOCHONDRIAL-DNA (MTDNA) POINT MUTATION IN THE TRNA(TRP) GENE
Authors: SILVESTRI G RANA M DIMUZIO A UNCINI A TONALI P SERVIDEI S
Citation: G. Silvestri et al., A LATE-ONSET MITOCHONDRIAL MYOPATHY IS ASSOCIATED WITH A NOVEL MITOCHONDRIAL-DNA (MTDNA) POINT MUTATION IN THE TRNA(TRP) GENE, Neuromuscular disorders, 8(5), 1998, pp. 291-295
MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION
Authors: SERVIDEI S
Citation: S. Servidei, MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION, Neuromuscular disorders, 8(2), 1998, pp. 8-11
MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION
Authors: SERVIDEI S
Citation: S. Servidei, MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION, Neuromuscular disorders, 8(1), 1998, pp. 13-19
HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DEAFNESS, MENTAL-RETARDATION, AND ABSENCE OF SENSORY LARGE MYELINATED FIBERS - CONFIRMATION OFA NEW ENTITY
Authors: SABATELLI M MIGNOGNA T LIPPI G SERVIDEI S ZOLLINO M PADUA L LOMONACO M DEARMAS L MEREU ML TONALI P
Citation: M. Sabatelli et al., HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DEAFNESS, MENTAL-RETARDATION, AND ABSENCE OF SENSORY LARGE MYELINATED FIBERS - CONFIRMATION OFA NEW ENTITY, American journal of medical genetics, 75(3), 1998, pp. 309-313
FUNCTIONAL INVOLVEMENT OF CEREBRAL-CORTEX IN DUCHENNE MUSCULAR-DYSTROPHY
Authors: DILAZZARO V RESTUCCIA D SERVIDEI S NARDONE R OLIVIERO A PROFICE P MANGIOLA F TONALI P ROTHWELL JC
Citation: V. Dilazzaro et al., FUNCTIONAL INVOLVEMENT OF CEREBRAL-CORTEX IN DUCHENNE MUSCULAR-DYSTROPHY, Muscle & nerve, 21(5), 1998, pp. 662-664
GIANT DYSTROPHIN DELETION ASSOCIATED WITH CONGENITAL CATARACT AND MILD MUSCULAR-DYSTROPHY
Authors: MIRABELLA M GALLUZZI G MANFREDI G BERTINI E RICCI E DELEO R TONALI P SERVIDEI S
Citation: M. Mirabella et al., GIANT DYSTROPHIN DELETION ASSOCIATED WITH CONGENITAL CATARACT AND MILD MUSCULAR-DYSTROPHY, Neurology, 51(2), 1998, pp. 592-595
LAMININ ALPHA-2 MUSCULAR-DYSTROPHY - GENOTYPE PHENOTYPE STUDIES OF 22PATIENTS/
Authors: PEGORARO E MARKS H GARCIA CA CRAWFORD T MANCIAS P CONNOLLY AM FANIN M MARTINELLO F TREVISAN CP ANGELINI C STELLA A SCAVINA M MUNK RL SERVIDEI S BONNEMANN CC BERTORINI T ACSADI G THOMPSON CE GAGNON D HOGANSON G CARVER V ZIMMERMAN RA HOFFMAN EP
Citation: E. Pegoraro et al., LAMININ ALPHA-2 MUSCULAR-DYSTROPHY - GENOTYPE PHENOTYPE STUDIES OF 22PATIENTS/, Neurology, 51(1), 1998, pp. 101-110
MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION
Authors: SERVIDEI S
Citation: S. Servidei, MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION, Neuromuscular disorders, 7(2), 1997, pp. 13-18
GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS
Authors: FOUAD G DALAKAS M SERVIDEI S MENDELL JR VANDENBERGH P ANGELINI C ALDERSON K GRIGGS RC TAWIL R GREGG R HOGAN K POWERS PA WEINBERG N MALONEE W PTACEK LJ
Citation: G. Fouad et al., GENOTYPE-PHENOTYPE CORRELATIONS OF DHP RECEPTOR ALPHA(1)-SUBUNIT GENE-MUTATIONS CAUSING HYPOKALEMIC PERIODIC PARALYSIS, Neuromuscular disorders, 7(1), 1997, pp. 33-38
FUNCTIONAL INVOLVEMENT OF CENTRAL-NERVOUS-SYSTEM IN MITOCHONDRIAL DISORDERS
Authors: DILAZZARO V RESTUCCIA D SERVIDEI S VALERIANI M NARDONE R MANFREDI G SILVESTRI G RICCI E TONALI P
Citation: V. Dilazzaro et al., FUNCTIONAL INVOLVEMENT OF CENTRAL-NERVOUS-SYSTEM IN MITOCHONDRIAL DISORDERS, ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 105(3), 1997, pp. 171-180
MITOCHONDRIAL ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS)
Authors: DITRAPANI G GREGORI B SERVIDEI S RICCI E SABATELLI M TONALI P
Citation: G. Ditrapani et al., MITOCHONDRIAL ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS), Clinical neuropathology, 16(4), 1997, pp. 195-200
HEPATOCELLULAR-CARCINOMA (HCC) COMPLICATING LIVER-CIRRHOSIS IN TYPE-III GLYCOGEN-STORAGE-DISEASE (GSD-III)
Authors: SICILIANO M DECANDIA E SERVIDEI S BALLARIN S TOMASELLO D LANDOLFI R ROSSI L
Citation: M. Siciliano et al., HEPATOCELLULAR-CARCINOMA (HCC) COMPLICATING LIVER-CIRRHOSIS IN TYPE-III GLYCOGEN-STORAGE-DISEASE (GSD-III), Hepatology, 26(4), 1997, pp. 1894-1894
ASYMPTOMATIC DYSTROPHINOPATHY
Authors: MORRONE A ZAMMARCHI E SCACHERI PC DONATI MA HOOP RC SERVIDEI S GALLUZZI G HOFFMAN EP
Citation: A. Morrone et al., ASYMPTOMATIC DYSTROPHINOPATHY, American journal of medical genetics, 69(3), 1997, pp. 261-267
MATERNALLY INHERITED CARDIOMYOPATHY - A NEW PHENOTYPE ASSOCIATED WITHTHE A TO G AT NT.3243 OF MITOCHONDRIAL-DNA (MELAS MUTATION)
Authors: SILVESTRI G BERTINI E SERVIDEI S RANA M ZACHARA E RICCI E TONALI P
Citation: G. Silvestri et al., MATERNALLY INHERITED CARDIOMYOPATHY - A NEW PHENOTYPE ASSOCIATED WITHTHE A TO G AT NT.3243 OF MITOCHONDRIAL-DNA (MELAS MUTATION), Muscle & nerve, 20(2), 1997, pp. 221-225
STATIC AND DYNAMIC COMPONENTS IN THE LONGITUDINAL SMOOTH-MUSCLE RESPONSE TO PASSIVE CHANGES IN LENGTH OF ISOLATED PORTAL-VEIN FROM NORMAL AND MDX MOUSE
Authors: MANCINELLI R TONALI P SERVIDEI S BROCCOLINI A ROMANI R TRINGALI A AZZENA GB
Citation: R. Mancinelli et al., STATIC AND DYNAMIC COMPONENTS IN THE LONGITUDINAL SMOOTH-MUSCLE RESPONSE TO PASSIVE CHANGES IN LENGTH OF ISOLATED PORTAL-VEIN FROM NORMAL AND MDX MOUSE, Pflugers Archiv, 434(2), 1997, pp. 64-64
GENOTYPE-PHENOTYPE CORRELATION IN ITALIAN PATIENTS AFFECTED BY ACID MALTASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-II GSD-II)
Authors: SERVIDEI S SPINAZZOLA A BERTINI E DEROSA G SILVESTRI G ODOARDI F RICCI E TONALI P
Citation: S. Servidei et al., GENOTYPE-PHENOTYPE CORRELATION IN ITALIAN PATIENTS AFFECTED BY ACID MALTASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-II GSD-II), Neurology, 48(3), 1997, pp. 5119-5119
MULTIPLE MITOCHONDRIAL-DNA (MTDNA) REARRANGEMENTS ARE PRESENT IN PATIENTS WITH VERY LARGE MTDNA DELETIONS
Authors: RANA M SILVESTRI G RICCI E PARIS E TONALI P SERVIDEI S
Citation: M. Rana et al., MULTIPLE MITOCHONDRIAL-DNA (MTDNA) REARRANGEMENTS ARE PRESENT IN PATIENTS WITH VERY LARGE MTDNA DELETIONS, Neurology, 48(3), 1997, pp. 6136-6136
A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD
Authors: RICCI E DEIDDA G CACURRI S GALLUZZI G PIAZZO N MERICO B COLANTONI L DEROSA G SERVIDEI S TONALI P FELICETTI L
Citation: E. Ricci et al., A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD, Neurology, 48(3), 1997, pp. 21002-21002
MITOCHONDRIAL-DNA DELETIONS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: LEZZA AMS CORMIO A GERARDI P SILVESTRI G SERVIDEI S SERLENGA L CANTATORE P GADALETA MN
Citation: Ams. Lezza et al., MITOCHONDRIAL-DNA DELETIONS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, FEBS letters, 418(1-2), 1997, pp. 167-170
MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION
Authors: SERVIDEI S
Citation: S. Servidei, MITOCHONDRIAL ENCEPHALOMYOPATHIES - GENE MUTATION, Neuromuscular disorders, 6(5), 1996, pp. 11-15
CLINICAL HETEROGENEITY OF SERONEGATIVE MYASTHENIA-GRAVIS
Authors: EVOLI A BATOCCHI AP LOMONACO M SERVIDEI S PADUA L MAJOLINI L TONALI P
Citation: A. Evoli et al., CLINICAL HETEROGENEITY OF SERONEGATIVE MYASTHENIA-GRAVIS, Neuromuscular disorders, 6(3), 1996, pp. 155-161
MULTIPLE MITOCHONDRIAL-DNA DELETIONS CAN BE DETECTED BY IN-SITU HYBRIDIZATION IN AUTOSOMAL-DOMINANT CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH NEGATIVE SOUTHERN BLOT
Authors: RICCI E BROCCOLINI A SILVESTRI G SERVIDEI S RANA M BERTINI E TONALI P
Citation: E. Ricci et al., MULTIPLE MITOCHONDRIAL-DNA DELETIONS CAN BE DETECTED BY IN-SITU HYBRIDIZATION IN AUTOSOMAL-DOMINANT CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH NEGATIVE SOUTHERN BLOT, Neurology, 46(2), 1996, pp. 3006-3006
A SIGNIFICANT PROPORTION OF CYTOCHROME-C-OXIDASE FIBERS HARBORING HIGHER PERCENTAGES OF MUTANT MITOCHONDRIAL-DNA CAN BE FOUND IN MELAS-3243PATIENTS
Authors: RANA M SILVESTRI G RICCI E PARIS E TONALI P SERVIDEI S
Citation: M. Rana et al., A SIGNIFICANT PROPORTION OF CYTOCHROME-C-OXIDASE FIBERS HARBORING HIGHER PERCENTAGES OF MUTANT MITOCHONDRIAL-DNA CAN BE FOUND IN MELAS-3243PATIENTS, Neurology, 46(2), 1996, pp. 3011-3011
Risultati: 1-25 | 26-50 | 51-59