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EFFICIENT AND SPECIFIC AMPLIFICATION OF IDENTIFIED PARTIAL DUPLICATIONS OF HUMAN MITOCHONDRIAL-DNA BY LONG PCR
Authors: FROMENTY B MANFREDI G SADLOCK J ZHANG L KING MP SCHON EA
Citation: B. Fromenty et al., EFFICIENT AND SPECIFIC AMPLIFICATION OF IDENTIFIED PARTIAL DUPLICATIONS OF HUMAN MITOCHONDRIAL-DNA BY LONG PCR, Biochimica et biophysica acta, N. Gene structure and expression, 1308(3), 1996, pp. 222-230
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
IN-VITRO RESTORATION OF RESPIRATORY-CHAIN FUNCTION BY GENETIC COMPLEMENTATION OF 2 NONOVERLAPPING MITOCHONDRIAL-DNA DELETIONS IN POSTMITOTIC MUSCLE
Authors: SOBREIRA C KING MP DAVIDSON M SCHON EA MIRANDA AF
Citation: C. Sobreira et al., IN-VITRO RESTORATION OF RESPIRATORY-CHAIN FUNCTION BY GENETIC COMPLEMENTATION OF 2 NONOVERLAPPING MITOCHONDRIAL-DNA DELETIONS IN POSTMITOTIC MUSCLE, Neurology, 46(2), 1996, pp. 60003-60003
EVIDENCE THAT SPECIFIC MTDNA POINT MUTATIONS MAY NOT ACCUMULATE IN SKELETAL-MUSCLE DURING NORMAL HUMAN AGING
Authors: PALLOTTI F CHEN X BONILLA E SCHON EA
Citation: F. Pallotti et al., EVIDENCE THAT SPECIFIC MTDNA POINT MUTATIONS MAY NOT ACCUMULATE IN SKELETAL-MUSCLE DURING NORMAL HUMAN AGING, American journal of human genetics, 59(3), 1996, pp. 591-602
MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) - AN IMMUNOHISTOCHEMICAL STUDY OF THE BRAIN
Authors: SPARACO M SCHON EA DIMAURO S BONILLA E
Citation: M. Sparaco et al., MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) - AN IMMUNOHISTOCHEMICAL STUDY OF THE BRAIN, Brain pathology, 5(2), 1995, pp. 125-133
GERM-LINE THERAPY TO CURE MITOCHONDRIAL DISEASE - PROTOCOL AND ETHICSOF IN-VITRO OVUM NUCLEAR TRANSPLANTATION
Authors: RUBENSTEIN DS THOMASMA DC SCHON EA ZINAMAN MJ
Citation: Ds. Rubenstein et al., GERM-LINE THERAPY TO CURE MITOCHONDRIAL DISEASE - PROTOCOL AND ETHICSOF IN-VITRO OVUM NUCLEAR TRANSPLANTATION, CQ. Cambridge quarterly of healthcare ethics, 4(3), 1995, pp. 316-339
A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE
Authors: MANFREDI G SCHON EA MORAES CT BONILLA E BERRY GT SLADKY JT DIMAURO S
Citation: G. Manfredi et al., A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE, Neuromuscular disorders, 5(5), 1995, pp. 391-398
PAUCITY OF DELETED MITOCHONDRIAL DNAS IN BRAIN-REGIONS OF HUNTINGTONS-DISEASE PATIENTS
Authors: CHEN X BONILLA E SCIACCO M SCHON EA
Citation: X. Chen et al., PAUCITY OF DELETED MITOCHONDRIAL DNAS IN BRAIN-REGIONS OF HUNTINGTONS-DISEASE PATIENTS, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 229-233
IN-VITRO ANALYSIS OF MUTATIONS CAUSING MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS IN THE MITOCHONDRIAL TRNA(LYS) GENE - 2 GENOTYPES PRODUCE SIMILAR PHENOTYPES
Authors: MASUCCI JP DAVIDSON M KOGA Y SCHON EA KING MP
Citation: Jp. Masucci et al., IN-VITRO ANALYSIS OF MUTATIONS CAUSING MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS IN THE MITOCHONDRIAL TRNA(LYS) GENE - 2 GENOTYPES PRODUCE SIMILAR PHENOTYPES, Molecular and cellular biology, 15(5), 1995, pp. 2872-2881
ANALYSIS OF CYBRIDS HARBORING MELAS MUTATIONS IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE
Authors: KOGA Y DAVIDSON M SCHON EA KING MP
Citation: Y. Koga et al., ANALYSIS OF CYBRIDS HARBORING MELAS MUTATIONS IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE, Muscle & nerve, 1995, pp. 119-123
PHENOTYPE GENOTYPE CORRELATIONS IN SKELETAL-MUSCLE OF PATIENTS WITH MTDNA DELETIONS
Authors: MORAES CT SCIACCO M RICCI E TENGAN CH HAO H BONILLA E SCHON EA DIMAURO S
Citation: Ct. Moraes et al., PHENOTYPE GENOTYPE CORRELATIONS IN SKELETAL-MUSCLE OF PATIENTS WITH MTDNA DELETIONS, Muscle & nerve, 1995, pp. 150-153
GENETIC AND FUNCTIONAL COMPLEMENTATION OF DELETED MITOCHONDRIAL-DNA
Authors: DAVIDSON M ZHANG L KOGA Y SCHON EA KING MP
Citation: M. Davidson et al., GENETIC AND FUNCTIONAL COMPLEMENTATION OF DELETED MITOCHONDRIAL-DNA, Neurology, 45(4), 1995, pp. 381-381
LATE-ONSET MUSCLE MITOCHONDRIAL-DNA (MTDNA) DEPLETION - DIAGNOSIS BY SINGLE-FIBER PCR
Authors: SCIACCO M GASPARORIPPA P SHANSKE S MENDELL JR SCHON EA DIMAURO S BONILLA E
Citation: M. Sciacco et al., LATE-ONSET MUSCLE MITOCHONDRIAL-DNA (MTDNA) DEPLETION - DIAGNOSIS BY SINGLE-FIBER PCR, Neurology, 45(4), 1995, pp. 434-434
LIMB-GIRDLE MYOPATHY ASSOCIATED WITH MITOCHONDRIAL-DNA DUPLICATION - CLINICAL, BIOCHEMICAL, MORPHOLOGICAL AND MOLECULAR-GENETIC FEATURES
Authors: MANFREDI G HIRANO M SCHON EA DIMAURO S BONILLA E
Citation: G. Manfredi et al., LIMB-GIRDLE MYOPATHY ASSOCIATED WITH MITOCHONDRIAL-DNA DUPLICATION - CLINICAL, BIOCHEMICAL, MORPHOLOGICAL AND MOLECULAR-GENETIC FEATURES, Neurology, 45(4), 1995, pp. 445-445
HIGH-LEVELS OF MITOCHONDRIAL-DNA WITH AN UNSTABLE 260-BP DUPLICATION IN A PATIENT WITH MITOCHONDRIAL MYOPATHY
Authors: MANFREDI G SERVIDEI S BONILLA E SHANSKE S SCHON EA DIMAURO S MORAES CT
Citation: G. Manfredi et al., HIGH-LEVELS OF MITOCHONDRIAL-DNA WITH AN UNSTABLE 260-BP DUPLICATION IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, Neurology, 45(4), 1995, pp. 762-768
REARRANGED MITOCHONDRIAL GENOMES ARE PRESENT IN HUMAN OOCYTES
Authors: CHEN X PROSSER R SIMONETTI S SADLOCK J JAGIELLO G SCHON EA
Citation: X. Chen et al., REARRANGED MITOCHONDRIAL GENOMES ARE PRESENT IN HUMAN OOCYTES, American journal of human genetics, 57(2), 1995, pp. 239-247
DISTRIBUTION OF WILD-TYPE AND COMMON DELETION FORMS OF MTDNA IN NORMAL AND RESPIRATION-DEFICIENT MUSCLE-FIBERS FROM PATIENTS WITH MITOCHONDRIAL MYOPATHY (VOL 3, PG 13, 1994)
Authors: SCIACCO M BONILLA E SCHON EA DIMAURO S MORAES CT
Citation: M. Sciacco et al., DISTRIBUTION OF WILD-TYPE AND COMMON DELETION FORMS OF MTDNA IN NORMAL AND RESPIRATION-DEFICIENT MUSCLE-FIBERS FROM PATIENTS WITH MITOCHONDRIAL MYOPATHY (VOL 3, PG 13, 1994), Human molecular genetics, 3(4), 1994, pp. 687-687
EXTREMELY HIGH-LEVELS OF MUTANT MTDNAS CO-LOCALIZE WITH CYTOCHROME-C OXIDASE-NEGATIVE RAGGED-RED FIBERS IN PATIENTS HARBORING A POINT MUTATION AT NT-3243
Authors: PETRUZZELLA V MORAES CT SANO MC BONILLA E DIMAURO S SCHON EA
Citation: V. Petruzzella et al., EXTREMELY HIGH-LEVELS OF MUTANT MTDNAS CO-LOCALIZE WITH CYTOCHROME-C OXIDASE-NEGATIVE RAGGED-RED FIBERS IN PATIENTS HARBORING A POINT MUTATION AT NT-3243, Human molecular genetics, 3(3), 1994, pp. 449-454
DISTRIBUTION OF WILD-TYPE AND COMMON DELETION FORMS OF MTDNA IN NORMAL AND RESPIRATION-DEFICIENT MUSCLE-FIBERS FROM PATIENTS WITH MITOCHONDRIAL MYOPATHY
Authors: SCIACCO M BONILLA E SCHON EA DIMAURO S MORAES CT
Citation: M. Sciacco et al., DISTRIBUTION OF WILD-TYPE AND COMMON DELETION FORMS OF MTDNA IN NORMAL AND RESPIRATION-DEFICIENT MUSCLE-FIBERS FROM PATIENTS WITH MITOCHONDRIAL MYOPATHY, Human molecular genetics, 3(1), 1994, pp. 13-19
THE MITOCHONDRIAL TRNA(LEU(UUR)) MUTATION AT NT-3243 IS ASSOCIATED WITH MITOCHONDRIAL PROLIFERATION AND ABNORMAL PROCESSING IN TISSUES FROMMELAS PATIENTS
Authors: KAUFMANN P KOGA Y HIRANO M KING MP DIMAURO S SCHON EA
Citation: P. Kaufmann et al., THE MITOCHONDRIAL TRNA(LEU(UUR)) MUTATION AT NT-3243 IS ASSOCIATED WITH MITOCHONDRIAL PROLIFERATION AND ABNORMAL PROCESSING IN TISSUES FROMMELAS PATIENTS, Annals of neurology, 36(2), 1994, pp. 317-317
INVESTIGATION OF MUSCLE-SPECIFIC CYTOCHROME-C-OXIDASE (COX) SUBUNIT MESSENGER-RNAS IN COX-DEFICIENT MYOPATHIES
Authors: ARNAUDO E HIRANO M DIMAURO S SCHON EA
Citation: E. Arnaudo et al., INVESTIGATION OF MUSCLE-SPECIFIC CYTOCHROME-C-OXIDASE (COX) SUBUNIT MESSENGER-RNAS IN COX-DEFICIENT MYOPATHIES, Annals of neurology, 36(2), 1994, pp. 319-319
AN ALGORITHM-BASED ON GRAPH-THEORY FOR THE ASSEMBLY OF CONTIGS IN PHYSICAL MAPPING OF DNA
Authors: ZHANG PS SCHON EA FISCHER SG CAYANIS E WEISS J KISTLER S BOURNE PE
Citation: Ps. Zhang et al., AN ALGORITHM-BASED ON GRAPH-THEORY FOR THE ASSEMBLY OF CONTIGS IN PHYSICAL MAPPING OF DNA, Computer applications in the biosciences, 10(3), 1994, pp. 309-317
MITOCHONDRIAL ENCEPHALOMYOPATHIES - CLINICAL AND MOLECULAR ANALYSIS
Authors: SCHON EA HIRANO M DIMAURO S
Citation: Ea. Schon et al., MITOCHONDRIAL ENCEPHALOMYOPATHIES - CLINICAL AND MOLECULAR ANALYSIS, Journal of bioenergetics and biomembranes, 26(3), 1994, pp. 291-299
A T-]C MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IN A CHILD WITH LEIGH-SYNDROME
Authors: SANTORELLI FM SHANSKE S JAIN KD TICK D SCHON EA DIMAURO S
Citation: Fm. Santorelli et al., A T-]C MUTATION AT NT-8993 OF MITOCHONDRIAL-DNA IN A CHILD WITH LEIGH-SYNDROME, Neurology, 44(5), 1994, pp. 972-974
DEFECTS IN MITOCHONDRIAL PROTEIN-SYNTHESIS AND RESPIRATORY-CHAIN ACTIVITY SEGREGATE WITH THE MELAS-3271 MUTATION
Authors: DAVISON M KOGA Y SCHON EA KING MP
Citation: M. Davison et al., DEFECTS IN MITOCHONDRIAL PROTEIN-SYNTHESIS AND RESPIRATORY-CHAIN ACTIVITY SEGREGATE WITH THE MELAS-3271 MUTATION, Neurology, 44(4), 1994, pp. 10000336-10000336
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