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Results: 1-25 | 26-44
Results: 1-25/44
CLINICAL AND MOLECULAR CORRELATIONS IN PROGRESSIVE EXTERNAL OPHTHALMOPARESIS WITH MULTIPLE MTDNA DELETIONS
Authors: CARROZZO R SANTORO L CASALI C SANTORELLI FM
Citation: R. Carrozzo et al., CLINICAL AND MOLECULAR CORRELATIONS IN PROGRESSIVE EXTERNAL OPHTHALMOPARESIS WITH MULTIPLE MTDNA DELETIONS, European journal of human genetics, 6, 1998, pp. 1002-1002
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
CELLULAR AND MOLECULAR STUDIES IN CULTURED MUSCLE FROM PATIENTS WITH MULTIPLE MTDNA DELETIONS
Authors: CARROZZO R DAVIDSON M WALKER W MIRANDA AF
Citation: R. Carrozzo et al., CELLULAR AND MOLECULAR STUDIES IN CULTURED MUSCLE FROM PATIENTS WITH MULTIPLE MTDNA DELETIONS, European journal of human genetics, 6, 1998, pp. 4079-4079
THE BETA-SUBUNITS AND GAMMA-SUBUNITS OF THE HUMAN PLATELET-ACTIVATING-FACTOR ACETYL HYDROLASE ISOFORM IB (PAFAH1B2 AND PAFAH1B3) MAP TO CHROMOSOME 11Q23 AND 19Q13.1, RESPECTIVELY
Authors: MORO F ARRIGO G FOGLI A BERNARD L CARROZZO R
Citation: F. Moro et al., THE BETA-SUBUNITS AND GAMMA-SUBUNITS OF THE HUMAN PLATELET-ACTIVATING-FACTOR ACETYL HYDROLASE ISOFORM IB (PAFAH1B2 AND PAFAH1B3) MAP TO CHROMOSOME 11Q23 AND 19Q13.1, RESPECTIVELY, Genomics (San Diego, Calif.), 51(1), 1998, pp. 157-159
THE HUMAN ROX GENE - GENOMIC STRUCTURE AND MUTATION ANALYSIS IN HUMANBREAST-TUMORS
Authors: LONIGRO C VENESIO T REYMOND A MERONI G ALBERICI P CAINARCA S ENRICO F STACK M LEDBETTER DH LISCIA DS BALLABIO A CARROZZO R
Citation: C. Lonigro et al., THE HUMAN ROX GENE - GENOMIC STRUCTURE AND MUTATION ANALYSIS IN HUMANBREAST-TUMORS, Genomics, 49(2), 1998, pp. 275-282
PAROXYSMAL TONIC UPGAZE OF CHILDHOOD WITH ATAXIA - A BENIGN TRANSIENTDYSTONIA WITH AUTOSOMAL-DOMINANT INHERITANCE
Authors: GUERRINI R BELMONTE A CARROZZO R
Citation: R. Guerrini et al., PAROXYSMAL TONIC UPGAZE OF CHILDHOOD WITH ATAXIA - A BENIGN TRANSIENTDYSTONIA WITH AUTOSOMAL-DOMINANT INHERITANCE, Brain & development, 20(2), 1998, pp. 116-118
MULTIPLE MTDNA DELETIONS FEATURES IN AUTOSOMAL-DOMINANT AND RECESSIVEDISEASES SUGGEST DISTINCT PATHOGENESES
Authors: CARROZZO R HIRANO M FROMENTY B CASALI C SANTORELLI FM BONILLA E DIMAURO S SCHON EA MIRANDA AF
Citation: R. Carrozzo et al., MULTIPLE MTDNA DELETIONS FEATURES IN AUTOSOMAL-DOMINANT AND RECESSIVEDISEASES SUGGEST DISTINCT PATHOGENESES, Neurology, 50(1), 1998, pp. 99-106
CHROMOSOME-20 RING - A CHROMOSOMAL DISORDER ASSOCIATED WITH A PARTICULAR ELECTROCLINICAL PATTERN
Authors: CANEVINI MP SGRO V ZUFFARDI O CANGER R CARROZZO R ROSSI E LEDBETTER D MINICUCCI F VIGNOLI A PIAZZINI A GUIDOLIN L SALTARELLI A DALLABERNARDINA B
Citation: Mp. Canevini et al., CHROMOSOME-20 RING - A CHROMOSOMAL DISORDER ASSOCIATED WITH A PARTICULAR ELECTROCLINICAL PATTERN, Epilepsia, 39(9), 1998, pp. 942-951
A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3
Authors: CHONG SS PACK SD ROSCHKE AV TANIGAMI A CARROZZO R SMITH ACM DOBYNS WB LEDBETTER DH
Citation: Ss. Chong et al., A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3, Human molecular genetics, 6(2), 1997, pp. 147-155
POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME
Authors: LONIGRO C CHONG SS SMITH ACM DOBYNS WB CARROZZO R LEDBETTER DH
Citation: C. Lonigro et al., POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME, Human molecular genetics, 6(2), 1997, pp. 157-164
MITOCHONDRIAL TRNA(CYS) GENE MUTATION (A5814G) - A 2ND FAMILY WITH MITOCHONDRIAL ENCEPHALOPATHY
Authors: SANTORELLI FM SICILIANO G CASALI C BASIRICO MG CARROZZO R CALVOSA F SARTUCCI F BONFIGLIO L MURRI L DIMAURO S
Citation: Fm. Santorelli et al., MITOCHONDRIAL TRNA(CYS) GENE MUTATION (A5814G) - A 2ND FAMILY WITH MITOCHONDRIAL ENCEPHALOPATHY, Neuromuscular disorders, 7(3), 1997, pp. 156-159
ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR (VOL 16, PG 2892, 1997)
Authors: MERONI G REYMOND A ALCALAY M BORSANI G TANIGAMI A TONLORENZI R LONIGRO C MESSALI S ZOLLO M LEDBETTER DH BRENT R BALLABIO A CARROZZO R
Citation: G. Meroni et al., ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR (VOL 16, PG 2892, 1997), EMBO journal, 16(19), 1997, pp. 6055-6055
ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR
Authors: MERONI G REYMOND A ALCALAY M BORSANI G TANIGAMI A TONLORENZI R LONIGRO C MESSALI S ZOLLO M LEDBETTER DH BRENT R BALLABIO A CARROZZO R
Citation: G. Meroni et al., ROX, A NOVEL BHLHZIP PROTEIN EXPRESSED IN QUIESCENT CELLS THAT HETERODIMERIZES WITH MAX, BINDS A NONCANONICAL E-BOX AND ACTS AS A TRANSCRIPTIONAL REPRESSOR, EMBO journal, 16(10), 1997, pp. 2892-2906
MULTIPLE CONGENITAL-ANOMALIES, BRAIN HYPOMYELINATION, AND OCULAR ALBINISM IN A FEMALE WITH DUP(X)(PTER-]Q24--Q21.32-]QTER) AND RANDOM X-INACTIVATION
Authors: CARROZZO R ARRIGO G ROSSI E BARDONI B CAMMARATA M GANDULLIA P GATTI R ZUFFARDI O
Citation: R. Carrozzo et al., MULTIPLE CONGENITAL-ANOMALIES, BRAIN HYPOMYELINATION, AND OCULAR ALBINISM IN A FEMALE WITH DUP(X)(PTER-]Q24--Q21.32-]QTER) AND RANDOM X-INACTIVATION, American journal of medical genetics, 72(3), 1997, pp. 329-334
HIGH PROPORTIONS OF MTDNA DUPLICATIONS IN PATIENTS WITH KEARNS-SAYRE-SYNDROME OCCUR IN THE HEART
Authors: FROMENTY B CARROZZO R SHANSKE S SCHON EA
Citation: B. Fromenty et al., HIGH PROPORTIONS OF MTDNA DUPLICATIONS IN PATIENTS WITH KEARNS-SAYRE-SYNDROME OCCUR IN THE HEART, American journal of medical genetics, 71(4), 1997, pp. 443-452
CHANGES IN SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS UNDERGOING EXERCISE DECONDITIONING - EFFECT OF PROPIONYL-L-CARNITINE
Authors: BREVETTI G FANIN M DEAMICIS V CARROZZO R DILELLO F MARTONE VD ANGELINI C
Citation: G. Brevetti et al., CHANGES IN SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS UNDERGOING EXERCISE DECONDITIONING - EFFECT OF PROPIONYL-L-CARNITINE, Muscle & nerve, 20(9), 1997, pp. 1115-1120
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
DEFICIENT MUSCLE CARNITINE TRANSPORT IN PRIMARY CARNITINE DEFICIENCY
Authors: PONS R CARROZZO R TEIN I WALKER WF ADDONIZIO LJ RHEAD W MIRANDA AF DIMAURO S DEVIVO DC
Citation: R. Pons et al., DEFICIENT MUSCLE CARNITINE TRANSPORT IN PRIMARY CARNITINE DEFICIENCY, Pediatric research, 42(5), 1997, pp. 583-587
RECIPROCAL X-CHROMOSOME REARRANGEMENTS RESULTING IN A DELETION DUPLICATION EVENT FOR OPPOSITE PORTIONS OF THE X/
Authors: GIGLIO S ARRIGO G CARROZZO R PIROLA B FRACCARO M ZUFFARDI O
Citation: S. Giglio et al., RECIPROCAL X-CHROMOSOME REARRANGEMENTS RESULTING IN A DELETION DUPLICATION EVENT FOR OPPOSITE PORTIONS OF THE X/, American journal of human genetics, 61(4), 1997, pp. 715-715
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
MUTATION ANALYSIS IN THE LIS1 GENE OF 14 PATIENTS WITH ISOLATED LISSENCEPHALY SEQUENCE
Authors: FOGLI A LONIGRO C RENIERI A FERNANDEZ E PILZ D LEDBETTER DH GUERRINI R CARROZZO R
Citation: A. Fogli et al., MUTATION ANALYSIS IN THE LIS1 GENE OF 14 PATIENTS WITH ISOLATED LISSENCEPHALY SEQUENCE, American journal of human genetics, 61(4), 1997, pp. 1950-1950
INTERCHROMOSOMAL AND INTRACHROMOSOMAL REARRANGEMENTS ARE BOTH INVOLVED IN THE ORIGIN OF 15Q11-Q13 DELETIONS IN PRADER-WILLI-SYNDROME
Authors: CARROZZO R ROSSI E CHRISTIAN SL KITTIKAMRON K LIVIERI C CORRIAS A PUCCI L FOIS A SIMI P BOSIO L BECCARIA L ZUFFARDI O LEDBETTER DH
Citation: R. Carrozzo et al., INTERCHROMOSOMAL AND INTRACHROMOSOMAL REARRANGEMENTS ARE BOTH INVOLVED IN THE ORIGIN OF 15Q11-Q13 DELETIONS IN PRADER-WILLI-SYNDROME, American journal of human genetics, 61(1), 1997, pp. 228-231
2 NEW NONSENSE MUTATIONS (Q80X, Q389X) IN PATIENTS WITH SEVERE HUNTERSYNDROME (MUCOPOLYSACCHARIDOSIS TYPE-II)
Authors: CARROZZO R TONLORENZI R CORSOLINI F GATTI R
Citation: R. Carrozzo et al., 2 NEW NONSENSE MUTATIONS (Q80X, Q389X) IN PATIENTS WITH SEVERE HUNTERSYNDROME (MUCOPOLYSACCHARIDOSIS TYPE-II), Human mutation, 7(2), 1996, pp. 184-185
PRADER-WILLI AND ANGELMAN-SYNDROMES - DIS CREPANCY BETWEEN CLINICAL AND LABORATORY DIAGNOSES
Authors: PIERLUIGI M PERFUMO C DAGNA F BRICARELLI L PERRONI R TONLORENZI R MAZZOTTI R CAVANI S CARROZZO R
Citation: M. Pierluigi et al., PRADER-WILLI AND ANGELMAN-SYNDROMES - DIS CREPANCY BETWEEN CLINICAL AND LABORATORY DIAGNOSES, Rivista italiana di pediatria, 22(3), 1996, pp. 336-341
MULTIPLE MITOCHONDRIAL-DNA REARRANGEMENTS IN MITOCHONDRIAL DISEASES
Authors: CARROZZO R FROMENTY B CASALI C SANTORELLI FM HIRANO M DIMAURO S SCHON EA MIRANDA AF
Citation: R. Carrozzo et al., MULTIPLE MITOCHONDRIAL-DNA REARRANGEMENTS IN MITOCHONDRIAL DISEASES, Neurology, 46(2), 1996, pp. 60001-60001
Risultati: 1-25 | 26-44