AAAAAA

   
Results: 1-18 |
Results: 18
VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY IN A CHILD WITH RECURRENT MYOGLOBINURIA
Authors: MINETTI C GARAVAGLIA B BADO M INVERNIZZI F BRUNO C RIMOLDI M PONS R TARONI F CORDONE G
Citation: C. Minetti et al., VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY IN A CHILD WITH RECURRENT MYOGLOBINURIA, Neuromuscular disorders, 8(1), 1998, pp. 3-6
THE BETA-OXIDATION OF ARACHIDONIC-ACID AND THE SYNTHESIS OF DOCOSAHEXAENOIC ACID ARE SELECTIVELY AND CONSISTENTLY ALTERED IN SKIN FIBROBLASTS FROM 3 ZELLWEGER PATIENTS VERSUS X-ADRENOLEUKODYSTROPHY, ALZHEIMER AND CONTROL SUBJECTS
Authors: PETRONI A BERTAGNOLIO B LASPADA P BLASEVICH M PAPINI N GOVONI S RIMOLDI M GALLI C
Citation: A. Petroni et al., THE BETA-OXIDATION OF ARACHIDONIC-ACID AND THE SYNTHESIS OF DOCOSAHEXAENOIC ACID ARE SELECTIVELY AND CONSISTENTLY ALTERED IN SKIN FIBROBLASTS FROM 3 ZELLWEGER PATIENTS VERSUS X-ADRENOLEUKODYSTROPHY, ALZHEIMER AND CONTROL SUBJECTS, Neuroscience letters, 250(3), 1998, pp. 145-148
FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE
Authors: DIONISIVICI C SENECA S ZEVIANI M FARIELLO G RIMOLDI M BERTINI E DEMEIRLEIR L
Citation: C. Dionisivici et al., FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE, Journal of inherited metabolic disease, 21(1), 1998, pp. 2-8
THE PARAFASCICULAR THALAMIC NUCLEUS MODULATES MESSENGER-RNA ENCODING GLUTAMATE-DECARBOXYLASE-67 IN RAT STRIATUM
Authors: GIORGI S RIMOLDI M ROSSI A CONSOLO S
Citation: S. Giorgi et al., THE PARAFASCICULAR THALAMIC NUCLEUS MODULATES MESSENGER-RNA ENCODING GLUTAMATE-DECARBOXYLASE-67 IN RAT STRIATUM, Neuroscience, 80(3), 1997, pp. 793-801
AUTOSOMAL-DOMINANT LIMB-GIRDLE MYOPATHY WITH RAGGED-RED FIBERS AND CARDIOMYOPATHY - A PEDIGREE STUDY BY IN-VIVO P-31-MR SPECTROSCOPY INDICATING A MULTISYSTEM MITOCHONDRIAL DEFECT
Authors: FABRIZI GM LODI R DETTORRE M MALANDRINI A CAVALLARO T RIMOLDI M ZANIOL P BARBIROLI B GUAZZI G
Citation: Gm. Fabrizi et al., AUTOSOMAL-DOMINANT LIMB-GIRDLE MYOPATHY WITH RAGGED-RED FIBERS AND CARDIOMYOPATHY - A PEDIGREE STUDY BY IN-VIVO P-31-MR SPECTROSCOPY INDICATING A MULTISYSTEM MITOCHONDRIAL DEFECT, Journal of the neurological sciences, 137(1), 1996, pp. 20-27
NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS
Authors: TIRANTI V MUNARO M SANDONA D LAMANTEA E RIMOLDI M DIDONATO S BISSON R ZEVIANI M
Citation: V. Tiranti et al., NUCLEAR-DNA ORIGIN OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME - GENETIC-EVIDENCE BASED ON PATIENTS-DERIVED RHO-DEGREES TRANSFORMANTS, Human molecular genetics, 4(11), 1995, pp. 2017-2023
RIBOFLAVIN-RESPONSIVE GLUTARIC ACIDURIA TYPE-II PRESENTING AS A LEUKODYSTROPHY
Authors: UZIEL G GARAVAGLIA B CICERI E MORONI I RIMOLDI M
Citation: G. Uziel et al., RIBOFLAVIN-RESPONSIVE GLUTARIC ACIDURIA TYPE-II PRESENTING AS A LEUKODYSTROPHY, Pediatric neurology, 13(4), 1995, pp. 333-335
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
EPILEPSIA-PARTIALIS-CONTINUA ASSOCIATED WITH NADH-COENZYME Q-REDUCTASE DEFICIENCY
Authors: ANTOZZI C FRANCESCHETTI S FILIPPINI G BARBIROLI B SAVOIARDO M FIACCHINO F RIMOLDI M LODI R ZANIOL P ZEVIANI M
Citation: C. Antozzi et al., EPILEPSIA-PARTIALIS-CONTINUA ASSOCIATED WITH NADH-COENZYME Q-REDUCTASE DEFICIENCY, Journal of the neurological sciences, 129(2), 1995, pp. 152-161
FAMILIAL CARDIOMYOPATHY, MENTAL-RETARDATION AND MYOPATHY ASSOCIATED WITH DESMIN-TYPE INTERMEDIATE FILAMENTS
Authors: MUNTONI F CATANI G MATEDDU A RIMOLDI M CONGIU T FAA G MARROSU MG CIANCHETTI C PORCU M
Citation: F. Muntoni et al., FAMILIAL CARDIOMYOPATHY, MENTAL-RETARDATION AND MYOPATHY ASSOCIATED WITH DESMIN-TYPE INTERMEDIATE FILAMENTS, Neuromuscular disorders, 4(3), 1994, pp. 233-241
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
ADRENOLEUKODYSTROPHY - CLINICAL AND THERA PEUTIC ASPECTS IN THE ITALIAN EXPERIENCE
Authors: CAPPA M BERTINI E CAMBIASO P DELBALZO P DICAPUA M MILANI L BARDELLI P RIMOLDI M UZIEL G
Citation: M. Cappa et al., ADRENOLEUKODYSTROPHY - CLINICAL AND THERA PEUTIC ASPECTS IN THE ITALIAN EXPERIENCE, Rivista italiana di pediatria, 20(2), 1994, pp. 130-137
MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN 2 ITALIAN PATIENTS WITH ETHYLMALONIC ACIDURIA AND PECULIAR CLINICAL PHENOTYPE
Authors: GARAVAGLIA B COLAMARIA V CARRARA F TONIN P RIMOLDI M UZIEL G
Citation: B. Garavaglia et al., MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN 2 ITALIAN PATIENTS WITH ETHYLMALONIC ACIDURIA AND PECULIAR CLINICAL PHENOTYPE, Journal of inherited metabolic disease, 17(3), 1994, pp. 301-303
A NEW STABLE-ISOTOPE DILUTION METHOD FOR MEASUREMENT OF EROTIC ACID UTILIZING SOLVENT-EXTRACTED URINE
Authors: RIMOLDI M BERGOMI P ROMEO A DIDONATO S
Citation: M. Rimoldi et al., A NEW STABLE-ISOTOPE DILUTION METHOD FOR MEASUREMENT OF EROTIC ACID UTILIZING SOLVENT-EXTRACTED URINE, Journal of inherited metabolic disease, 17(2), 1994, pp. 243-244
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
4-HYDROXYBUTYRIC ACIDURIA - CLINICAL FINDINGS AND VIGABATRIN THERAPY
Authors: UZIEL G BARDELLI P PANTALEONI C RIMOLDI M SAVOIARDO M
Citation: G. Uziel et al., 4-HYDROXYBUTYRIC ACIDURIA - CLINICAL FINDINGS AND VIGABATRIN THERAPY, Journal of inherited metabolic disease, 16(3), 1993, pp. 520-522
INTEREST OF SKIN FIBROBLASTS FOR THE DIAGNOSIS OF CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: COLLOMBET JM ZABOT MT VIDAILHET M MAIRE I ECHENNE B FLOQUET J DUMOULIN R RIMOLDI M MATHIEU M MOUSSON B
Citation: Jm. Collombet et al., INTEREST OF SKIN FIBROBLASTS FOR THE DIAGNOSIS OF CYTOCHROME-C-OXIDASE DEFICIENCY, Pediatrie, 48(4), 1993, pp. 287-295
RESPIRATORY-CHAIN AND MITOCHONDRIAL-DNA IN MUSCLE AND BRAIN IN PARKINSONS-DISEASE PATIENTS
Authors: DIDONATO S ZEVIANI M GIOVANNINI P SAVARESE N RIMOLDI M MARIOTTI C GIROTTI F CARACENI T
Citation: S. Didonato et al., RESPIRATORY-CHAIN AND MITOCHONDRIAL-DNA IN MUSCLE AND BRAIN IN PARKINSONS-DISEASE PATIENTS, Neurology, 43(11), 1993, pp. 2262-2268
Risultati: 1-18 |