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Results: 1-19 |
Results: 19
L-2-HYDROXYGLUTARIC ACIDURIA - MRI IN 7 CASES
Authors: DINCERTI L FARINA L MORONI I UZIEL G SAVOIARDO M
Citation: L. Dincerti et al., L-2-HYDROXYGLUTARIC ACIDURIA - MRI IN 7 CASES, Neuroradiology, 40(11), 1998, pp. 727-733
A SINGLE-CELL COMPLEMENTATION CLASS IS COMMON TO SEVERAL CASES OF CYTOCHROME-C OXIDASE-DEFECTIVE LEIGHS SYNDROME
Authors: MUNARO M TIRANTI V SANDONA D LAMANTEA E UZIEL G BISSON R ZEVIANI M
Citation: M. Munaro et al., A SINGLE-CELL COMPLEMENTATION CLASS IS COMMON TO SEVERAL CASES OF CYTOCHROME-C OXIDASE-DEFECTIVE LEIGHS SYNDROME, Human molecular genetics, 6(2), 1997, pp. 221-228
EARLY DIAGNOSIS OF ADRENOLEUKODYSTROPHY
Authors: DIBIASE A PAVONE L SALVATI S BERTINI E UZIEL G
Citation: A. Dibiase et al., EARLY DIAGNOSIS OF ADRENOLEUKODYSTROPHY, Rivista italiana di pediatria, 23(5), 1997, pp. 827-828
DEVELOPMENTAL DEFECT OF MYELINATION RESULTING FROM PROTEOLIPID PROTEIN MUTATION IN HEREDITARY SPASTIC PARAPLEGIA OF CHILDHOOD
Authors: MIMAULT C COURTOIS V GIRAUD G BERTINI E BAETHMANN M FONTAN D UZIEL G VOIT T BERNARD I CAILLOUX F BOESPFLUGTANGUY O
Citation: C. Mimault et al., DEVELOPMENTAL DEFECT OF MYELINATION RESULTING FROM PROTEOLIPID PROTEIN MUTATION IN HEREDITARY SPASTIC PARAPLEGIA OF CHILDHOOD, Annals of neurology, 42(3), 1997, pp. 24-24
MITOCHONDRIAL DISEASE-ASSOCIATED WITH THE T8993G MUTATION OF THE MITOCHONDRIAL ATPASE-6 GENE - A CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDYIN 6 FAMILIES
Authors: UZIEL G MORONI I LAMANTEA E FRATTA GM CICERI E CARRARA F ZEVIANI M
Citation: G. Uziel et al., MITOCHONDRIAL DISEASE-ASSOCIATED WITH THE T8993G MUTATION OF THE MITOCHONDRIAL ATPASE-6 GENE - A CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDYIN 6 FAMILIES, Journal of Neurology, Neurosurgery and Psychiatry, 63(1), 1997, pp. 16-22
FATTY-ACID MITOCHONDRIAL BETA-OXIDATION AND HYPOGLYCEMIA IN CHILDREN
Authors: TARONI F UZIEL G
Citation: F. Taroni et G. Uziel, FATTY-ACID MITOCHONDRIAL BETA-OXIDATION AND HYPOGLYCEMIA IN CHILDREN, Current opinion in neurology, 9(6), 1996, pp. 477-485
EXPERIENCE WITH LEUKODYSTROPHY PATIENTS IN MILAN
Authors: UZIEL G
Citation: G. Uziel, EXPERIENCE WITH LEUKODYSTROPHY PATIENTS IN MILAN, Molecular and chemical neuropathology, 27(1), 1996, pp. 4-5
GLUTARIC ACIDURIA TYPE-II
Authors: UZIEL G
Citation: G. Uziel, GLUTARIC ACIDURIA TYPE-II, Molecular and chemical neuropathology, 27(1), 1996, pp. 81-82
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
NEUROLOGICAL PRESENTATIONS OF MITOCHONDRIAL DISEASES
Authors: ZEVIANI M BERTAGNOLIO B UZIEL G
Citation: M. Zeviani et al., NEUROLOGICAL PRESENTATIONS OF MITOCHONDRIAL DISEASES, Journal of inherited metabolic disease, 19(4), 1996, pp. 504-520
RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS
Authors: CARUSO U ADAMI A BERTINI E BURLINA AB CARNEVALE F CERONE R DIONISIVICI C GIORDANO G LEUZZI E PARENTI G SAVASTA S UZIEL G ZEVIANI M
Citation: U. Caruso et al., RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 143-148
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
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
SYMMETRICAL LESIONS OF THE SUBTHALAMIC NUCLEI IN MITOCHONDRIAL ENCEPHALOPATHIES - AN ALMOST DISTINCTIVE MARK OF LEIGH-DISEASE WITH COX DEFICIENCY
Authors: SAVOIARDO M CICERI E DINCERTI L UZIEL G SCOTTI G
Citation: M. Savoiardo et al., SYMMETRICAL LESIONS OF THE SUBTHALAMIC NUCLEI IN MITOCHONDRIAL ENCEPHALOPATHIES - AN ALMOST DISTINCTIVE MARK OF LEIGH-DISEASE WITH COX DEFICIENCY, American journal of neuroradiology, 16(8), 1995, pp. 1746-1747
A NOVEL POINT MUTATION IN A 3'-SPLICE-SITE OF THE NADH-CYTOCHROME-B(5) REDUCTASE GENE RESULTS IN IMMUNOLOGICALLY UNDETECTABLE ENZYME AND IMPAIRED NADH-DEPENDENT ASCORBATE REGENERATION IN CULTURED FIBROBLASTS OF A PATIENT WITH TYPE-II HEREDITARY METHEMOGLOBINEMIA
Authors: SHIRABE K LANDI MT TAKESHITA M UZIEL G FEDRIZZI E BORGESE N
Citation: K. Shirabe et al., A NOVEL POINT MUTATION IN A 3'-SPLICE-SITE OF THE NADH-CYTOCHROME-B(5) REDUCTASE GENE RESULTS IN IMMUNOLOGICALLY UNDETECTABLE ENZYME AND IMPAIRED NADH-DEPENDENT ASCORBATE REGENERATION IN CULTURED FIBROBLASTS OF A PATIENT WITH TYPE-II HEREDITARY METHEMOGLOBINEMIA, American journal of human genetics, 57(2), 1995, pp. 302-310
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
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
MITOCHONDRIAL TRANSFER RNA(THR) MUTATION IN FATAL INFANTILE MYOPATHY WITH DEFICIENCY OF THE RESPIRATORY COMPLEX-I AND COMPLEX-IV
Authors: TIRANTI V FABRIZI GM MARIOTTI C SAVARESE N UZIEL G DIDONATO S ZEVIANI M
Citation: V. Tiranti et al., MITOCHONDRIAL TRANSFER RNA(THR) MUTATION IN FATAL INFANTILE MYOPATHY WITH DEFICIENCY OF THE RESPIRATORY COMPLEX-I AND COMPLEX-IV, Neurology, 43(4), 1993, pp. 284-284
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