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Results: 1-25 | 26-50 | 51-61
Results: 1-25/61
CLINICAL AND MOLECULAR CHARACTERIZATION OF A NOVEL INCL MUTATION IN AN ITALIAN PATIENT
Authors: SANTORELLI FM CARROZZO R PETRUZZELLA V ZEVIANI M BERTINI ES
Citation: Fm. Santorelli et al., CLINICAL AND MOLECULAR CHARACTERIZATION OF A NOVEL INCL MUTATION IN AN ITALIAN PATIENT, European journal of human genetics, 6, 1998, pp. 1004-1004
SMN GENE-EXPRESSION IN THE DEVELOPING SPINAL-CORD
Authors: LIZIER C GIAVAZZI A PESCHANSKI M HADDAD B ZEVIANI M DILUCA M BATTAGLIA G
Citation: C. Lizier et al., SMN GENE-EXPRESSION IN THE DEVELOPING SPINAL-CORD, European journal of neuroscience, 10, 1998, pp. 15802-15802
A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION
Authors: TIRANTI V DAGRUMA L PAREYSON D MORA M CARRARA F ZELANTE L GASPARINI P ZEVIANI M
Citation: V. Tiranti et al., A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION, Annals of neurology, 43(1), 1998, pp. 98-101
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
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
SPASTIC PARAPLEGIA AND OXPHOS IMPAIRMENT CAUSED BY MUTATIONS IN PARAPLEGIN, A NUCLEAR-ENCODED MITOCHONDRIAL METALLOPROTEASE
Authors: CASARI G DEFUSCO M CIARMATORI S ZEVIANI M MORA M FERNANDEZ P DEMICHELE G FILLA A COCOZZA S MARCONI R DURR A FONTAINE B BALLABIO A
Citation: G. Casari et al., SPASTIC PARAPLEGIA AND OXPHOS IMPAIRMENT CAUSED BY MUTATIONS IN PARAPLEGIN, A NUCLEAR-ENCODED MITOCHONDRIAL METALLOPROTEASE, Cell, 93(6), 1998, pp. 973-983
COMPLEMENTATION TESTS AND SEQUENCE-ANALYSIS OF 7 GENES-CONTROLLING THE FORMATION OF CYTOCHROME-C-OXIDASE IN LEIGH-DISEASE
Authors: ZEVIANI M PETRUZZELLA V IANNA P FERNANDEZ P TIRANTI V
Citation: M. Zeviani et al., COMPLEMENTATION TESTS AND SEQUENCE-ANALYSIS OF 7 GENES-CONTROLLING THE FORMATION OF CYTOCHROME-C-OXIDASE IN LEIGH-DISEASE, Neurology, 50(4), 1998, pp. 4117-4117
MITOCHONDRIAL DISORDERS
Authors: ZEVIANI M TIRANTI V PIANTADOSI C
Citation: M. Zeviani et al., MITOCHONDRIAL DISORDERS, Medicine, 77(1), 1998, pp. 59-72
A NOVEL INSERTION MUTATION (A(169I)) IN THE CLN1 GENE IS ASSOCIATED WITH INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT
Authors: SANTORELLI FM BERTINI E PETRUZZELLA V DICAPUA M CALVIERI S GASPARINI P ZEVIANI M
Citation: Fm. Santorelli et al., A NOVEL INSERTION MUTATION (A(169I)) IN THE CLN1 GENE IS ASSOCIATED WITH INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT, Biochemical and biophysical research communications, 245(2), 1998, pp. 519-522
FAMILIAL PROGRESSIVE SENSORINEURAL DEAFNESS IS MAINLY DUE TO THE MTDNA A1555G MUTATION AND IS ENHANCED BY TREATMENT WITH AMINOGLYCOSIDES
Authors: ESTIVILL X GOVEA N BARCELO A PERELLO E BADENAS C ROMERO E MORAL L SCOZZARI R DURBANO L ZEVIANI M TORRONI A
Citation: X. Estivill et al., FAMILIAL PROGRESSIVE SENSORINEURAL DEAFNESS IS MAINLY DUE TO THE MTDNA A1555G MUTATION AND IS ENHANCED BY TREATMENT WITH AMINOGLYCOSIDES, American journal of human genetics, 62(1), 1998, pp. 27-35
MITOCHONDRIAL DISORDERS
Authors: ZEVIANI M ANTOZZI C
Citation: M. Zeviani et C. Antozzi, MITOCHONDRIAL DISORDERS, Molecular human reproduction, 3(2), 1997, pp. 133-148
DISORDERS OF MITOCHONDRIA AND RELATED METABOLISM
Authors: ZEVIANI M FERNANDEZSILVA P TIRANTI V
Citation: M. Zeviani et al., DISORDERS OF MITOCHONDRIA AND RELATED METABOLISM, Current opinion in neurology, 10(2), 1997, pp. 160-167
CHARACTERIZATION AND EXPRESSION OF THE MOUSE ENDONUCLEASE-G GENE
Authors: PRATS E NOEL M LETOURNEAU J TIRANTI V VAQUE J DEBON R ZEVIANI M CORNUDELLA L RUIZCARRILLO A
Citation: E. Prats et al., CHARACTERIZATION AND EXPRESSION OF THE MOUSE ENDONUCLEASE-G GENE, DNA and cell biology, 16(9), 1997, pp. 1111-1122
IDENTIFICATION OF THE GENE ENCODING THE HUMAN MITOCHONDRIAL RNA-POLYMERASE (H-MTRPOL) BY CYBERSCREENING OF THE EXPRESSED SEQUENCE TAGS DATABASE
Authors: TIRANTI V SAVOIA A FORTI F DAPOLITO MF CENTRA M RACCHI M ZEVIANI M
Citation: V. Tiranti et al., IDENTIFICATION OF THE GENE ENCODING THE HUMAN MITOCHONDRIAL RNA-POLYMERASE (H-MTRPOL) BY CYBERSCREENING OF THE EXPRESSED SEQUENCE TAGS DATABASE, Human molecular genetics, 6(4), 1997, pp. 615-625
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
EXPRESSION OF THE SMN GENE, THE SPINAL MUSCULAR-ATROPHY DETERMINING GENE, IN THE MAMMALIAN CENTRAL-NERVOUS-SYSTEM
Authors: BATTAGLIA G PRINCIVALLE A FORTI F LIZIER C ZEVIANI M
Citation: G. Battaglia et al., EXPRESSION OF THE SMN GENE, THE SPINAL MUSCULAR-ATROPHY DETERMINING GENE, IN THE MAMMALIAN CENTRAL-NERVOUS-SYSTEM, Human molecular genetics, 6(11), 1997, pp. 1961-1971
DISORDERS OF NUCLEAR-MITOCHONDRIAL INTERGENOMIC SIGNALING
Authors: ZEVIANI M PETRUZZELLA V CARROZZO R
Citation: M. Zeviani et al., DISORDERS OF NUCLEAR-MITOCHONDRIAL INTERGENOMIC SIGNALING, Journal of bioenergetics and biomembranes, 29(2), 1997, pp. 121-130
OXIDATIVE-PHOSPHORYLATION DYSFUNCTION DOES NOT INCREASE THE RATE OF ACCUMULATION OF AGE-RELATED MTDNA DELETIONS IN SKELETAL-MUSCLE
Authors: TENGAN CH GABBAI AA SHANSKE S ZEVIANI M MORAES CT
Citation: Ch. Tengan et al., OXIDATIVE-PHOSPHORYLATION DYSFUNCTION DOES NOT INCREASE THE RATE OF ACCUMULATION OF AGE-RELATED MTDNA DELETIONS IN SKELETAL-MUSCLE, Mutation research, 379(1), 1997, pp. 1-11
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
CARDIOMYOPATHIES IN DISORDERS OF OXIDATIVE-METABOLISM
Authors: ANTOZZI C ZEVIANI M
Citation: C. Antozzi et M. Zeviani, CARDIOMYOPATHIES IN DISORDERS OF OXIDATIVE-METABOLISM, Cardiovascular Research, 35(2), 1997, pp. 184-199
IDENTIFICATION OF HUMAN ORTHOLOGS TO BCS-1, COX-15, PET-112, AND SCO-1, 4 YEAST GENES-CONTROLLING THE STRUCTURE OF THE MITOCHONDRIAL RESPIRATORY COMPLEXES
Authors: PETRUZZELLA O FERNANDEZ P MUNARO M CARROZZO R ZEVIANI M
Citation: O. Petruzzella et al., IDENTIFICATION OF HUMAN ORTHOLOGS TO BCS-1, COX-15, PET-112, AND SCO-1, 4 YEAST GENES-CONTROLLING THE STRUCTURE OF THE MITOCHONDRIAL RESPIRATORY COMPLEXES, American journal of human genetics, 61(4), 1997, pp. 1073-1073
IDENTIFICATION OF A NOVEL MUTATION OF THE CNL1 GENE LEADING TO INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT
Authors: SANTORELLI F BERTINI E PETRUZZELLA V DICAPUA M GASPARINI P ZEVIANI M
Citation: F. Santorelli et al., IDENTIFICATION OF A NOVEL MUTATION OF THE CNL1 GENE LEADING TO INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT, American journal of human genetics, 61(4), 1997, pp. 1516-1516
A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION
Authors: TIRANTI V CARRARA F DAGRUMA L PAREYSON D MORA M GASPARINI P ZEVIANI M
Citation: V. Tiranti et al., A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION, American journal of human genetics, 61(4), 1997, pp. 1882-1882
HAPLOTYPE AND PHYLOGENETIC ANALYSES SUGGEST THAT ONE EUROPEAN-SPECIFIC MTDNA BACKGROUND PLAYS A ROLE IN THE EXPRESSION OF LEBER HEREDITARY OPTIC NEUROPATHY BY INCREASING THE PENETRANCE OF THE PRIMARY MUTATION-11778 AND MUTATION-14484
Authors: TORRONI A PETROZZI M DURBANO L SELLITTO D ZEVIANI M CARRARA F CARDUCCI C LEUZZI V CARELLI V BARBONI P DENEGRI A SCOZZARI R
Citation: A. Torroni et al., HAPLOTYPE AND PHYLOGENETIC ANALYSES SUGGEST THAT ONE EUROPEAN-SPECIFIC MTDNA BACKGROUND PLAYS A ROLE IN THE EXPRESSION OF LEBER HEREDITARY OPTIC NEUROPATHY BY INCREASING THE PENETRANCE OF THE PRIMARY MUTATION-11778 AND MUTATION-14484, American journal of human genetics, 60(5), 1997, pp. 1107-1121
COMPLEX-I DEFICIENCY IS ASSOCIATED WITH 3243G C MITOCHONDRIAL-DNA IN OSTEOSARCOMA CELL CYBRIDS/
Authors: DUNBAR DR MOONIE PA ZEVIANI M HOLT IJ
Citation: Dr. Dunbar et al., COMPLEX-I DEFICIENCY IS ASSOCIATED WITH 3243G C MITOCHONDRIAL-DNA IN OSTEOSARCOMA CELL CYBRIDS/, Human molecular genetics, 5(1), 1996, pp. 123-129
Risultati: 1-25 | 26-50 | 51-61