AAAAAA

   
Results: 1-25 | 26-32
Results: 1-25/32
CYTOCHROME-C-OXIDASE SUBUNIT-I MICRODELETION IN A PATIENT WITH MOTOR-NEURON DISEASE
Authors: COMI GP BORDONI A SALANI S FRANCESCHINA L SCIACCO M PRELLE A FORTUNATO F ZEVIANI M NAPOLI L BRESOLIN N MOGGIO M AUSENDA CD TAANMAN JW SCARLATO G
Citation: Gp. Comi et al., CYTOCHROME-C-OXIDASE SUBUNIT-I MICRODELETION IN A PATIENT WITH MOTOR-NEURON DISEASE, Annals of neurology, 43(1), 1998, pp. 110-116
A NOVEL MITOCHONDRIAL TRNA(ILE) POINT MUTATION IN CHRONIC PROGRESSIVEEXTERNAL OPHTHALMOPLEGIA
Authors: FRANCESCHINA L SALANI S BORDONI A SCIACCO M NAPOLI L COMI GP PRELLE A FORTUNATO F HADJIGEORGIOU GM FARINA E BRESOLIN N DANGELO MG SCARLATO G
Citation: L. Franceschina et al., A NOVEL MITOCHONDRIAL TRNA(ILE) POINT MUTATION IN CHRONIC PROGRESSIVEEXTERNAL OPHTHALMOPLEGIA, Journal of neurology, 245(11), 1998, pp. 755-758
PARTIAL DEPLETION AND MULTIPLE DELETIONS OF MUSCLE MTDNA IN FAMILIAL MNGIE SYNDROME
Authors: PAPADIMITRIOU A COMI GP HADJIGEORGIOU GM BORDONI A SCIACCO M NAPOLI L PRELLE A MOGGIO M FAGIOLARI G BRESOLIN N SALANI S ANASTASOPOULOS I GIASSAKIS G DIVARI R SCARLATO G
Citation: A. Papadimitriou et al., PARTIAL DEPLETION AND MULTIPLE DELETIONS OF MUSCLE MTDNA IN FAMILIAL MNGIE SYNDROME, Neurology, 51(4), 1998, pp. 1086-1092
BRAIN ACTIVATION IN PATIENTS WITH MITOCHONDRIAL DISEASE WITHOUT CENTRAL-NERVOUS-SYSTEM INVOLVEMENT - A 31 P MAGNETIC-RESONANCE SPECTROSCOPYSTUDY
Authors: BOZZALI M RANGO M PRELLE A COMI G SCARLATO G BRESOLIN N
Citation: M. Bozzali et al., BRAIN ACTIVATION IN PATIENTS WITH MITOCHONDRIAL DISEASE WITHOUT CENTRAL-NERVOUS-SYSTEM INVOLVEMENT - A 31 P MAGNETIC-RESONANCE SPECTROSCOPYSTUDY, Neurology, 50(4), 1998, pp. 1039-1039
SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS
Authors: PRELLE A COMI GP TANCREDI L RIGOLETTO C CISCATO P FORTUNATO F NESTI S SCIACCO M ROBOTTI M BAZZI P FELISARI G MOGGIO M SCARLATO G
Citation: A. Prelle et al., SARCOGLYCAN DEFICIENCY IN A LARGE ITALIAN POPULATION OF MYOPATHIC PATIENTS, Acta Neuropathologica, 96(5), 1998, pp. 509-514
MYOPATHY AND VENTILATORY FAILURE IN SEVERE SEPSIS
Authors: IAPICHINO G VESCHI G ZANFORLIN G NOTO A CAPPELLARI A PRELLE A
Citation: G. Iapichino et al., MYOPATHY AND VENTILATORY FAILURE IN SEVERE SEPSIS, Intensive care medicine, 23(1), 1997, pp. 128-128
AN ATYPICAL CASE OF PARTIAL MEROSIN DEFICIENCY CONGENITAL MUSCULAR-DYSTROPHY
Authors: PRELLE A COMI GP RIGOLETTO C TURCONI A FELISARI G CISCATO P FORTUNATO F MESSINA S BRESOLIN N MORA M MOGGIO M SCARLATO G
Citation: A. Prelle et al., AN ATYPICAL CASE OF PARTIAL MEROSIN DEFICIENCY CONGENITAL MUSCULAR-DYSTROPHY, Journal of neurology, 244(6), 1997, pp. 391-395
FREQUENCY OF ALPHA-SARCOGLYCAN AND GAMMA-SARCOGLYCAN DEFICIENCY IN A LARGE POPULATION OF MYOPATHIC PATIENTS
Authors: PRELLE A TANCREDI L COMI GP RIGOLETTO C CISCATO P FORTUNATO F FELISARI G MOGGIO M SCARLATO G
Citation: A. Prelle et al., FREQUENCY OF ALPHA-SARCOGLYCAN AND GAMMA-SARCOGLYCAN DEFICIENCY IN A LARGE POPULATION OF MYOPATHIC PATIENTS, Neurology, 48(3), 1997, pp. 3131-3131
MITOCHONDRIAL ENCEPHALOMYOPATHIES - RETROSPECTIVE STUDY OF A POPULATION OF 220 PATIENTS SELECTED ACCORDING TO CLINICAL, MORPHOLOGICAL AND MOLECULAR-GENETIC CRITERIA
Authors: SCIACCO M PRELLE A NAPOLI L COMI GP BRESOLIN N TOSCANO A PAPADIMITRIOU A MOGGIO M SCARLATO G
Citation: M. Sciacco et al., MITOCHONDRIAL ENCEPHALOMYOPATHIES - RETROSPECTIVE STUDY OF A POPULATION OF 220 PATIENTS SELECTED ACCORDING TO CLINICAL, MORPHOLOGICAL AND MOLECULAR-GENETIC CRITERIA, Neurology, 48(3), 1997, pp. 51001-51001
A G(-]A TRANSVERSION AT THE 5'-SPLICE-SITE OF INTRON-69 OF THE DYSTROPHIN GENE CAUSING THE ABSENCE OF PERIPHERAL-NERVE DP116 AND SEVERE CLINICAL INVOLVEMENT IN A DMD PATIENT (VOL 4, PG 2171, 1995)(1))
Authors: COMI GP CIAFALONI E DESILVA HAR PRELLE A BARDONI A RIGOLETTO C ROBOTTI M BRESOLIN N MOGGIO M FORTUNATO F CISCATO P TURCONI A ROSES AD SCARLATO G
Citation: Gp. Comi et al., A G(-]A TRANSVERSION AT THE 5'-SPLICE-SITE OF INTRON-69 OF THE DYSTROPHIN GENE CAUSING THE ABSENCE OF PERIPHERAL-NERVE DP116 AND SEVERE CLINICAL INVOLVEMENT IN A DMD PATIENT (VOL 4, PG 2171, 1995)(1)), Human molecular genetics, 5(4), 1996, pp. 562-562
ASYMPTOMATIC FAMILIAL HYPERCKEMIA ASSOCIATED WITH DESMIN ACCUMULATIONIN SKELETAL-MUSCLE
Authors: PRELLE A RIGOLETTO C MOGGIO M SCIACCO M COMI GP CISCATO P FAGIOLARI G RAPUZZI S BIGNOTTI V SCARLATO G
Citation: A. Prelle et al., ASYMPTOMATIC FAMILIAL HYPERCKEMIA ASSOCIATED WITH DESMIN ACCUMULATIONIN SKELETAL-MUSCLE, Journal of the neurological sciences, 140(1-2), 1996, pp. 132-136
A G(-]A TRANSVERSION AT THE 5'-SPLICE-SITE OF INTRON-69 OF THE DYSTROPHIN GENE CAUSING THE ABSENCE OF PERIPHERAL-NERVE DP116 AND SEVERE CLINICAL INVOLVEMENT IN A DMD PATIENT(1))
Authors: COMI GP CIAFALONI E DESILVA HAR PRELLE A BARDONI A RIGOLETTO C ROBOTTI M BRESOLIN N MOGGIO M FORTUNATO F CISCATO P TURCONI A ROSE AD SCARLATO G
Citation: Gp. Comi et al., A G(-]A TRANSVERSION AT THE 5'-SPLICE-SITE OF INTRON-69 OF THE DYSTROPHIN GENE CAUSING THE ABSENCE OF PERIPHERAL-NERVE DP116 AND SEVERE CLINICAL INVOLVEMENT IN A DMD PATIENT(1)), Human molecular genetics, 4(11), 1995, pp. 2171-2174
DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY
Authors: TOSCANO A VITIELLO L COMI GP GALVAGNI F MIORIN M PRELLE A FORTUNATO F BARDONI A MORA M FIUMARA A FALSAPERLA R TOMELLERI G TONIN P DANIELI GA VITA G
Citation: A. Toscano et al., DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY, Neuromuscular disorders, 5(6), 1995, pp. 475-481
UTROPHIN EXPRESSION DURING HUMAN FETAL DEVELOPMENT
Authors: RIGOLETTO C PRELLE A CISCATO P MOGGIO M COMI G FORTUNATO F SCARLATO G
Citation: C. Rigoletto et al., UTROPHIN EXPRESSION DURING HUMAN FETAL DEVELOPMENT, International journal of developmental neuroscience, 13(6), 1995, pp. 585-593
EARLY-ONSET ENCEPHALOMYOPATHY ASSOCIATED WITH TISSUE-SPECIFIC MITOCHONDRIAL-DNA DEPLETION - A MORPHOLOGICAL, BIOCHEMICAL AND MOLECULAR-GENETIC STUDY
Authors: MARIOTTI C UZIEL G CARRARA F MORA M PRELLE A TIRANTI V DIDONATO S ZEVIANI M
Citation: C. Mariotti et al., EARLY-ONSET ENCEPHALOMYOPATHY ASSOCIATED WITH TISSUE-SPECIFIC MITOCHONDRIAL-DNA DEPLETION - A MORPHOLOGICAL, BIOCHEMICAL AND MOLECULAR-GENETIC STUDY, Journal of neurology, 242(9), 1995, pp. 547-556
GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA
Authors: MARIOTTI C SAVARESE N SUOMALAINEN A RIMOLDI M COMI G PRELLE A ANTOZZI C SERVIDEI S JARRE L DIDONATO S ZEVIANI M
Citation: C. Mariotti et al., GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA, Journal of neurology, 242(5), 1995, pp. 304-312
EARLY-ONSET CEREBELLAR-ATAXIA, MYOCLONUS AND HYPOGONADISM IN A CASE OF MITOCHONDRIAL COMPLEX-III DEFICIENCY TREATED WITH VITAMIN-K3 AND VITAMIN-C
Authors: TOSCANO A FAZIO MC VITA G CANNAVO S BRESOLIN N BET L PRELLE A BARBIROLI B IOTTI S ZANIOL P MAGAUDDA A TRIMARCHI E MESSINA C
Citation: A. Toscano et al., EARLY-ONSET CEREBELLAR-ATAXIA, MYOCLONUS AND HYPOGONADISM IN A CASE OF MITOCHONDRIAL COMPLEX-III DEFICIENCY TREATED WITH VITAMIN-K3 AND VITAMIN-C, Journal of neurology, 242(4), 1995, pp. 203-209
RYANODINE RECEPTOR GENE POINT MUTATION AND MALIGNANT HYPERTHERMIA SUSCEPTIBILITY
Authors: MORONI I GONANO EF COMI GP TEGAZZIN V PRELLE A BORDONI A BRESOLIN N SCARLATO G
Citation: I. Moroni et al., RYANODINE RECEPTOR GENE POINT MUTATION AND MALIGNANT HYPERTHERMIA SUSCEPTIBILITY, Journal of neurology, 242(3), 1995, pp. 127-133
OXPHOS DEFECTS AND MITOCHONDRIAL-DNA MUTATIONS IN CARDIOMYOPATHY
Authors: ZEVIANI M MARIOTTI C ANTOZZI C FRATTA GM RUSTIN P PRELLE A
Citation: M. Zeviani et al., OXPHOS DEFECTS AND MITOCHONDRIAL-DNA MUTATIONS IN CARDIOMYOPATHY, Muscle & nerve, 1995, pp. 170-174
HIGH SERUM CREATINE-KINASE LEVELS ASSOCIATED WITH CYLINDRICAL SPIRALSAT MUSCLE BIOPSY
Authors: RAPUZZI S PRELLE A MOGGIO M RIGOLETTO C CISCATO P COMI G FRANCESCA F SCARLATO G
Citation: S. Rapuzzi et al., HIGH SERUM CREATINE-KINASE LEVELS ASSOCIATED WITH CYLINDRICAL SPIRALSAT MUSCLE BIOPSY, Acta Neuropathologica, 90(6), 1995, pp. 660-664
COGNITIVE IMPAIRMENT IN DUCHENNE MUSCULAR-DYSTROPHY
Authors: BRESOLIN N CASTELLI E COMI GP FELISARI G BARDONI A PERANI D GRASSI F TURCONI A MAZZUCCHELLI F GALLOTTI D MOGGIO M PRELLE A AUSENDA C FAZIO G SCARLATO G
Citation: N. Bresolin et al., COGNITIVE IMPAIRMENT IN DUCHENNE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 4(4), 1994, pp. 359-369
MULTIPLE-SCLEROSIS AND MITOCHONDRIAL MYOPATHY - AN UNUSUAL COMBINATION OF DISEASES
Authors: BET L MOGGIO M COMI GP MARIANI C PRELLE A CHECCARELLI N BORDONI A BRESOLIN N SCARPINI E SCARLATO G
Citation: L. Bet et al., MULTIPLE-SCLEROSIS AND MITOCHONDRIAL MYOPATHY - AN UNUSUAL COMBINATION OF DISEASES, Journal of neurology, 241(8), 1994, pp. 511-516
BIOSYNTHESIS OF PORPHYRINS AND RELATED MACROCYCLES .42. PULSE LABELING EXPERIMENTS CONCERNING THE TIMING OF COBALT INSERTION DURING VITAMIN-B-12 BIOSYNTHESIS
Authors: BALACHANDRAN S VISHWAKARMA RA MONAGHAN SM PRELLE A STAMFORD NPJ LEEPER FJ BATTERSBY AR
Citation: S. Balachandran et al., BIOSYNTHESIS OF PORPHYRINS AND RELATED MACROCYCLES .42. PULSE LABELING EXPERIMENTS CONCERNING THE TIMING OF COBALT INSERTION DURING VITAMIN-B-12 BIOSYNTHESIS, Journal of the Chemical Society. Perkin transactions. I, (5), 1994, pp. 487-491
ANIONIC PHOSPHOLIPIDS CALCIUM-BINDING SITES IN DUCHENNE AND MURINE X-LINKED MUSCULAR-DYSTROPHY
Authors: MOGGIO M PRELLE A FAGIOLARI G CHECCARELLI N SCIACCO M CISCATO P SCARLATO G
Citation: M. Moggio et al., ANIONIC PHOSPHOLIPIDS CALCIUM-BINDING SITES IN DUCHENNE AND MURINE X-LINKED MUSCULAR-DYSTROPHY, Muscle & nerve, 17(5), 1994, pp. 485-488
ABERRANT TRANSCRIPTS IN THE TERMINAL REGION OF DYSTROPHIN GENE IN A CONGENITAL MYOPATHY PATIENT
Authors: CIAFALONI E COMI GP BRESOLIN N BARDONI A DESILVA R GARGHENTINO R FELISARI G ROBOTTI M PRELLE A ROSES A SCARLATO G
Citation: E. Ciafaloni et al., ABERRANT TRANSCRIPTS IN THE TERMINAL REGION OF DYSTROPHIN GENE IN A CONGENITAL MYOPATHY PATIENT, Neurology, 44(4), 1994, pp. 10000230-10000230
Risultati: 1-25 | 26-32