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Results: 1-25 | 26-26
Results: 1-25/26
A NEW NONRADIOACTIVE METHOD FOR THE SCREENING AND PRENATAL-DIAGNOSIS OF MYOTONIC-DYSTROPHY PATIENTS
Authors: BRUGNONI R MORANDI L BRAMBATI B BRISCIOLI V CORNELIO F MANTEGAZZA R
Citation: R. Brugnoni et al., A NEW NONRADIOACTIVE METHOD FOR THE SCREENING AND PRENATAL-DIAGNOSIS OF MYOTONIC-DYSTROPHY PATIENTS, Journal of neurology, 245(5), 1998, pp. 289-293
CONGENITAL MUSCULAR-DYSTROPHY (CMD) AND DYSTROPHIN-RELATED MUSCULAR-DYSTROPHIES - COMPARISON OF TRANSFORMING-GROWTH-FACTOR (TGF)-BETA-1 EXPRESSION IN MUSCLE-TISSUE
Authors: BERNASCONI P MORA M MORANDI L CORNELIO F MANTEGAZZA R
Citation: P. Bernasconi et al., CONGENITAL MUSCULAR-DYSTROPHY (CMD) AND DYSTROPHIN-RELATED MUSCULAR-DYSTROPHIES - COMPARISON OF TRANSFORMING-GROWTH-FACTOR (TGF)-BETA-1 EXPRESSION IN MUSCLE-TISSUE, Neurology, 50(4), 1998, pp. 5066-5066
X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE
Authors: MORA M CARTEGNI L DIBLASI C BARRESI R BIONE S DIBARLETTA MR MORANDI L MERLINI L NIGRO V POLITANO L DONATI MA CORNELIO F COBIANCHI F TONIOLO D
Citation: M. Mora et al., X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE, Annals of neurology, 42(2), 1997, pp. 249-253
CLIMATE-CHANGE AND WATER-RESOURCES
Authors: GLEICK P BIBERSTINE J BUCKINGHAM A DEARNESS T HIGHSMITH A MCTOPY J MORANDI L PERRON J STANFORD M STEVENS L
Citation: P. Gleick et al., CLIMATE-CHANGE AND WATER-RESOURCES, Journal - American Water Works Association, 89(11), 1997, pp. 107-110
CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS
Authors: BARRESI R CONFALONIERI V LANFOSSI M DIBLASI C TORCHIANA E MANTEGAZZA R JARRE L NARDOCCI N BOFFI P TEZZON F PINI A CORNELIO F MORA M MORANDI L
Citation: R. Barresi et al., CONCOMITANT DEFICIENCY OF BETA-SARCOGLYCANS AND GAMMA-SARCOGLYCANS IN20 ALPHA-SARCOGLYCAN (ADHALIN)-DEFICIENT PATIENTS - IMMUNOHISTOCHEMICAL ANALYSIS AND CLINICAL ASPECTS, Acta Neuropathologica, 94(1), 1997, pp. 28-35
MILD CLINICAL PHENOTYPE IN A 12-YEAR-OLD BOY WITH PARTIAL MEROSIN DEFICIENCY AND CENTRAL AND PERIPHERAL NERVOUS-SYSTEM ABNORMALITIES
Authors: MORA M MORONI I UZIEL G DIBLASI C BARRESI R FARINA L MORANDI L
Citation: M. Mora et al., MILD CLINICAL PHENOTYPE IN A 12-YEAR-OLD BOY WITH PARTIAL MEROSIN DEFICIENCY AND CENTRAL AND PERIPHERAL NERVOUS-SYSTEM ABNORMALITIES, Neuromuscular disorders, 6(5), 1996, pp. 377-381
CLINICAL HETEROGENEITY OF ADHALIN DEFICIENCY
Authors: MORANDI L BARRESI R DIBLASI C JUNG D SUNADA Y CONFALONIERI V DWORZAK F MANTEGAZZA R ANTOZZI C JARRE L PINI A GOBBI G BIANCHI C CORNELIO F CAMPBELL KP MORA M
Citation: L. Morandi et al., CLINICAL HETEROGENEITY OF ADHALIN DEFICIENCY, Annals of neurology, 39(2), 1996, pp. 196-202
DEVELOPMENTAL EXPRESSION OF DYSTROPHIN, DYSTROPHIN-ASSOCIATED GLYCOPROTEINS AND OTHER MEMBRANE CYTOSKELETAL PROTEINS IN HUMAN SKELETAL AND HEART-MUSCLE
Authors: MORA M DIBLASI C BARRESI R MORANDI L BRAMBATI B JARRE L CORNELIO F
Citation: M. Mora et al., DEVELOPMENTAL EXPRESSION OF DYSTROPHIN, DYSTROPHIN-ASSOCIATED GLYCOPROTEINS AND OTHER MEMBRANE CYTOSKELETAL PROTEINS IN HUMAN SKELETAL AND HEART-MUSCLE, Developmental brain research, 91(1), 1996, pp. 70-82
CLINICAL PHENOTYPES IN ADHALIN DEFICIENCY
Authors: MORA M MORANDI L BARRESI R DIBLASI C CONFALONIERI V MANTEGAZZA R ANTOZZI C CORNELIO F JUNG D SUNADA Y CAMPBELL KP
Citation: M. Mora et al., CLINICAL PHENOTYPES IN ADHALIN DEFICIENCY, Neurology, 46(2), 1996, pp. 4085-4085
AN UNUSUAL ASSOCIATION - CELIAC-DISEASE AND BECKER MUSCULAR-DYSTROPHY
Authors: MEINI A MORANDI L MORA M BERNASCONI P MONAFO V PILLAN MN UGAZIO AG PLEBANI A
Citation: A. Meini et al., AN UNUSUAL ASSOCIATION - CELIAC-DISEASE AND BECKER MUSCULAR-DYSTROPHY, The American journal of gastroenterology, 91(7), 1996, pp. 1459-1460
DYSTROPHIN-ASSOCIATED PROTEIN ABNORMALITIES IN DYSTROPHIN-DEFICIENT MUSCLE-FIBERS FROM SYMPTOMATIC AND ASYMPTOMATIC DUCHENNE BECKER MUSCULAR-DYSTROPHY CARRIERS/
Authors: DIBLASI C MORANDI L BARRESI R BLASEVICH F CORNELIO F MORA M
Citation: C. Diblasi et al., DYSTROPHIN-ASSOCIATED PROTEIN ABNORMALITIES IN DYSTROPHIN-DEFICIENT MUSCLE-FIBERS FROM SYMPTOMATIC AND ASYMPTOMATIC DUCHENNE BECKER MUSCULAR-DYSTROPHY CARRIERS/, Acta Neuropathologica, 92(4), 1996, pp. 369-377
IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE
Authors: BIONE S SMALL K AKSMANOVIC VMA DURSO M CICCODICOLA A MERLINI L MORANDI L KRESS W YATES JRW WARREN ST TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF NEW MUTATIONS IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE AND EVIDENCE FOR GENETIC-HETEROGENEITY OF THE DISEASE, Human molecular genetics, 4(10), 1995, pp. 1859-1863
LACK OF MESSENGER-RNA AND DYSTROPHIN EXPRESSION IN DMD PATIENTS 3 MONTHS AFTER MYOBLAST TRANSFER
Authors: MORANDI L BERNASCONI P GEBBIA M MORA M CROSTI F MANTEGAZZA R CORNELIO F
Citation: L. Morandi et al., LACK OF MESSENGER-RNA AND DYSTROPHIN EXPRESSION IN DMD PATIENTS 3 MONTHS AFTER MYOBLAST TRANSFER, Neuromuscular disorders, 5(4), 1995, pp. 291-295
MUTATIONAL ANALYSIS OF MUSCLE AND BRAIN-SPECIFIC PROMOTER REGIONS OF DYSTROPHIN GENE IN DMD BMD ITALIAN PATIENTS BY DENATURING GRADIENT GEL-ELECTROPHORESIS (DGGE)/
Authors: TUBIELLO G CARRERA P SORIANI N MORANDI L FERRARI M
Citation: G. Tubiello et al., MUTATIONAL ANALYSIS OF MUSCLE AND BRAIN-SPECIFIC PROMOTER REGIONS OF DYSTROPHIN GENE IN DMD BMD ITALIAN PATIENTS BY DENATURING GRADIENT GEL-ELECTROPHORESIS (DGGE)/, Molecular and cellular probes, 9(6), 1995, pp. 441-446
DMD AND BMD IN THE SAME FAMILY DUE TO 2 DISTINCT MUTATIONS
Authors: MORANDI L MORA M TEDESCHI S DIBLASI C CURCIO C DELEONARDIS P BRUGNONI R BERNASCONI P MANTEGAZZA R CONFALONIERI V CORNELIO F
Citation: L. Morandi et al., DMD AND BMD IN THE SAME FAMILY DUE TO 2 DISTINCT MUTATIONS, American journal of medical genetics, 59(4), 1995, pp. 501-505
DYSTROPHIN CHARACTERIZATION IN BMD PATIENTS - CORRELATION OF ABNORMALPROTEIN WITH CLINICAL PHENOTYPE
Authors: MORANDI L MORA M CONFALONIERI V BARRESI R DIBLASI C BRUGNONI R BERNASCONI P MANTEGAZZA R DWORZAK F ANTOZZI C BALESTRINI MR JARRE L PINI A MERLINI L PICCOLO G MAZZANTI A DANIEL S BLASEVICH F CORNELIO F
Citation: L. Morandi et al., DYSTROPHIN CHARACTERIZATION IN BMD PATIENTS - CORRELATION OF ABNORMALPROTEIN WITH CLINICAL PHENOTYPE, Journal of the neurological sciences, 132(2), 1995, pp. 146-155
EXPRESSION OF TRANSFORMING GROWTH-FACTOR-BETA-1 IN DYSTROPHIC PATIENTMUSCLES CORRELATES WITH FIBROSIS - PATHOGENETIC ROLE OF A FIBROGENIC CYTOKINE
Authors: BERNASCONI P TORCHIANA E CONFALONIERI P BRUGNONI R BARRESI R MORA M CORNELIO F MORANDI L MANTEGAZZA R
Citation: P. Bernasconi et al., EXPRESSION OF TRANSFORMING GROWTH-FACTOR-BETA-1 IN DYSTROPHIC PATIENTMUSCLES CORRELATES WITH FIBROSIS - PATHOGENETIC ROLE OF A FIBROGENIC CYTOKINE, The Journal of clinical investigation, 96(2), 1995, pp. 1137-1144
BETHLEM MYOPATHY - EARLY-ONSET BENIGN AUTOSOMAL-DOMINANT MYOPATHY WITH CONTRACTURES - DESCRIPTION OF 2 NEW FAMILIES
Authors: MERLINI L MORANDI L GRANATA C BALLESTRAZZI A
Citation: L. Merlini et al., BETHLEM MYOPATHY - EARLY-ONSET BENIGN AUTOSOMAL-DOMINANT MYOPATHY WITH CONTRACTURES - DESCRIPTION OF 2 NEW FAMILIES, Neuromuscular disorders, 4(5-6), 1994, pp. 503-511
LYSOSOMAL GLYCOGEN-STORAGE WITH NORMAL ACID MALTASE - A FAMILIAL STUDY WITH SUCCESSFUL HEART-TRANSPLANT
Authors: DWORZAK F CASAZZA F MORA M DEMARIA R GRONDA E BAROLDI G RIMOLDI M MORANDI L CORNELIO F
Citation: F. Dworzak et al., LYSOSOMAL GLYCOGEN-STORAGE WITH NORMAL ACID MALTASE - A FAMILIAL STUDY WITH SUCCESSFUL HEART-TRANSPLANT, Neuromuscular disorders, 4(3), 1994, pp. 243-247
DILATED CARDIOMYOPATHY REQUIRING CARDIAC TRANSPLANTATION AS INITIAL MANIFESTATION OF XP21 BECKER TYPE MUSCULAR-DYSTROPHY
Authors: PICCOLO G AZAN G TONIN P ARBUSTINI E GAVAZZI A BANFI P MORA M MORANDI L TEDESCHI S
Citation: G. Piccolo et al., DILATED CARDIOMYOPATHY REQUIRING CARDIAC TRANSPLANTATION AS INITIAL MANIFESTATION OF XP21 BECKER TYPE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 4(2), 1994, pp. 143-146
FETUS-LIKE DYSTROPHIN EXPRESSION AND OTHER CYTOSKELETAL PROTEIN ABNORMALITIES IN CENTRONUCLEAR MYOPATHIES
Authors: MORA M MORANDI L MERLINI L VITA G BARADELLO A BARRESI R DIBLASI C BLASEVICH F GEBBIA M DANIEL S CORNELIO F
Citation: M. Mora et al., FETUS-LIKE DYSTROPHIN EXPRESSION AND OTHER CYTOSKELETAL PROTEIN ABNORMALITIES IN CENTRONUCLEAR MYOPATHIES, Muscle & nerve, 17(10), 1994, pp. 1176-1184
LATE-ONSET RIBOFLAVIN-RESPONSIVE MYOPATHY WITH COMBINED MULTIPLE ACYL-COENZYME-A DEHYDROGENASE AND RESPIRATORY-CHAIN DEFICIENCY
Authors: ANTOZZI C GARAVAGLIA B MORA M RIMOLDI M MORANDI L URSINO E DIDONATO S
Citation: C. Antozzi et al., LATE-ONSET RIBOFLAVIN-RESPONSIVE MYOPATHY WITH COMBINED MULTIPLE ACYL-COENZYME-A DEHYDROGENASE AND RESPIRATORY-CHAIN DEFICIENCY, Neurology, 44(11), 1994, pp. 2153-2158
A UNIQUE CASE OF DYSTROPHINOPATHY
Authors: DWORZAK F MORA M MORANDI L BERNASCONI P CORNELIO F RIPAMONTI D
Citation: F. Dworzak et al., A UNIQUE CASE OF DYSTROPHINOPATHY, Journal of Neurology, Neurosurgery and Psychiatry, 57(9), 1994, pp. 1136-1137
IMMUNOHISTOCHEMICAL ANALYSIS OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER DUCHENNE MUSCULAR-DYSTROPHY WITH HUGE IN-FRAME DELETIONS IN THE NH2-TERMINAL AND ROD DOMAINS OF DYSTROPHIN/
Authors: MATSUMURA K BURGHES AHM MORA M TOME FMS MORANDI L CORNELLO F LETURCQ F JEANPIERRE M KAPLAN JC REINERT P FARDEAU M MENDELL JR CAMPBELL KP
Citation: K. Matsumura et al., IMMUNOHISTOCHEMICAL ANALYSIS OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER DUCHENNE MUSCULAR-DYSTROPHY WITH HUGE IN-FRAME DELETIONS IN THE NH2-TERMINAL AND ROD DOMAINS OF DYSTROPHIN/, The Journal of clinical investigation, 93(1), 1994, pp. 99-105
A NOVEL NONSENSE MUTATION IN THE HUMAN DYSTROPHIN GENE
Authors: SAAD FA VITA G MORA M MORANDI L VITIELLO L OLIVIERO S DANIELI GA
Citation: Fa. Saad et al., A NOVEL NONSENSE MUTATION IN THE HUMAN DYSTROPHIN GENE, Human mutation, 2(4), 1993, pp. 314-316
Risultati: 1-25 | 26-26