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Results: 1-25 | 26-50 | 51-75 | 76-96
Results: 26-50/96
A NOVEL AMINO-ACID SUBSTITUTION IN A PATIENT WITH CPT-II DEFICIENCY
Authors: KAUFMANN P OCONNELL S ELSCHAHAWI M SHANSKE S DIMAURO S
Citation: P. Kaufmann et al., A NOVEL AMINO-ACID SUBSTITUTION IN A PATIENT WITH CPT-II DEFICIENCY, Neurology, 48(3), 1997, pp. 5118-5118
MITOCHONDRIAL-DNA MUTATIONS IN SUDDEN-INFANT-DEATH-SYNDROME
Authors: SHANSKE S SANTORELLI FM HIRANO M DIMAURO S
Citation: S. Shanske et al., MITOCHONDRIAL-DNA MUTATIONS IN SUDDEN-INFANT-DEATH-SYNDROME, Neurology, 48(3), 1997, pp. 6138-6138
A NOVEL T1095C MUTATION IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE
Authors: THYAGARAJAN D BRESSMAN S SHANSKE S DIMAURO S FAHN S
Citation: D. Thyagarajan et al., A NOVEL T1095C MUTATION IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE, Neurology, 48(3), 1997, pp. 6139-6139
MUTATIONS IN THE MITOCHONDRIAL TRNALEU(UUR) GENE CAUSE A PREFERENTIALDECREASE IN THE MITOCHONDRIALLY SYNTHESIZED POLYPEPTIDES
Authors: VERMA A HAO HL SHANSKE S DIMAURO S MORAES CT
Citation: A. Verma et al., MUTATIONS IN THE MITOCHONDRIAL TRNALEU(UUR) GENE CAUSE A PREFERENTIALDECREASE IN THE MITOCHONDRIALLY SYNTHESIZED POLYPEPTIDES, Neurology, 48(3), 1997, pp. 51004-51004
CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF PATIENTS WITH MULTIPLEMTDNA DELETIONS
Authors: SANTORELLI FM HIRANO M SHANSKE S TANJI K BONILLA E SILVESTRI G CIAFALONI E TONIN P DIMAURO S
Citation: Fm. Santorelli et al., CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF PATIENTS WITH MULTIPLEMTDNA DELETIONS, Neurology, 48(3), 1997, pp. 51005-51005
2 LARGE SPANISH PEDIGREES WITH NONSYNDROMIC SENSORINEURAL DEAFNESS AND THE MTDNA MUTATION AT NT-1555 IN THE 12S RIBOSOMAL-RNA GENE - EVIDENCE OF HETEROPLASMY
Authors: ELSCHAHAWI M DEMUNAIN AL SARRAZIN AM SHANSKE AL BASIRICO M SHANSKE S DIMAURO S
Citation: M. Elschahawi et al., 2 LARGE SPANISH PEDIGREES WITH NONSYNDROMIC SENSORINEURAL DEAFNESS AND THE MTDNA MUTATION AT NT-1555 IN THE 12S RIBOSOMAL-RNA GENE - EVIDENCE OF HETEROPLASMY, Neurology, 48(2), 1997, pp. 453-456
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
IDENTIFICATION OF A NOVEL MUTATION IN THE MTDNA ND5 GENE ASSOCIATED WITH MELAS
Authors: SANTORELLI FM TANJI K KULIKOVA R SHANSKE S VILARINHO L HAYS AP DIMAURO S
Citation: Fm. Santorelli et al., IDENTIFICATION OF A NOVEL MUTATION IN THE MTDNA ND5 GENE ASSOCIATED WITH MELAS, Biochemical and biophysical research communications, 238(2), 1997, pp. 326-328
MISSENSE MUTATIONS IN A CONSERVED REGION OF THE ACID ALPHA-GLUCOSIDASE GENE - GENOTYPE-PHENOTYPE
Authors: HUIE ML TSUJINO S BEESLEY C BONTHRON D ENGEL A SHANSKE S DIMAURO S HIRSCHHORN R
Citation: Ml. Huie et al., MISSENSE MUTATIONS IN A CONSERVED REGION OF THE ACID ALPHA-GLUCOSIDASE GENE - GENOTYPE-PHENOTYPE, American journal of human genetics, 61(4), 1997, pp. 1466-1466
IDENTIFICATION OF A MUTATION IN THE MITOCHONDRIAL TRNA(CYS) GENE ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOPATHY
Authors: MANFREDI G SCHON EA BONILLA E MORAES CT SHANSKE S DIMAURO S
Citation: G. Manfredi et al., IDENTIFICATION OF A MUTATION IN THE MITOCHONDRIAL TRNA(CYS) GENE ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOPATHY, Human mutation, 7(2), 1996, pp. 158-163
CLONING OF BOVINE MUSCLE GLYCOGEN-PHOSPHORYLASE CDNA AND IDENTIFICATION OF A MUTATION IN CATTLE WITH MYOPHOSPHORYLASE DEFICIENCY, AN ANIMAL-MODEL FOR MCARDLES-DISEASE
Authors: TSUJINO S SHANSKE S VALBERG SJ CARDINET GH SMITH BP DIMAURO S
Citation: S. Tsujino et al., CLONING OF BOVINE MUSCLE GLYCOGEN-PHOSPHORYLASE CDNA AND IDENTIFICATION OF A MUTATION IN CATTLE WITH MYOPHOSPHORYLASE DEFICIENCY, AN ANIMAL-MODEL FOR MCARDLES-DISEASE, Neuromuscular disorders, 6(1), 1996, pp. 19-26
MITOCHONDRIAL-DNA AND RNA PROCESSING IN MELAS
Authors: KAUFMANN P KOGA Y SHANSKE S HIRANO M DIMAURO S KING MP SCHON EA
Citation: P. Kaufmann et al., MITOCHONDRIAL-DNA AND RNA PROCESSING IN MELAS, Annals of neurology, 40(2), 1996, pp. 172-180
MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN SPORADIC INCLUSION-BODY MYOSITIS - A STUDY OF 56 PATIENTS
Authors: SANTORELLI FM SCIACCO M TANJI K SHANSKE S VU TH GOLZI V GRIGGS RC MENDELL JR HAYS AP BERTORINI TE PESTRONK A BONILLA E DIMAURO S
Citation: Fm. Santorelli et al., MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN SPORADIC INCLUSION-BODY MYOSITIS - A STUDY OF 56 PATIENTS, Annals of neurology, 39(6), 1996, pp. 789-795
MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN THE ITALIAN KINDRED
Authors: TOSCANO A TSUJINO S VITA G SHANSKE S MESSINA C DIMAURO S
Citation: A. Toscano et al., MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN THE ITALIAN KINDRED, Muscle & nerve, 19(9), 1996, pp. 1134-1137
COMPARATIVE BIOCHEMICAL-STUDIES IN FIBROBLASTS FROM PATIENTS WITH DIFFERENT FORMS OF LEIGH-SYNDROME
Authors: VAZQUEZMEMIJE ME SHANSKE S SANTORELLI FM KRANZEBLE P DAVIDSON E DEVIVO DC DIMAURO S
Citation: Me. Vazquezmemije et al., COMPARATIVE BIOCHEMICAL-STUDIES IN FIBROBLASTS FROM PATIENTS WITH DIFFERENT FORMS OF LEIGH-SYNDROME, Journal of inherited metabolic disease, 19(1), 1996, pp. 43-50
ADULT-ONSET MELAS - EVIDENCE FOR INVOLVEMENT OF NEURONS AS WELL AS CEREBRAL VASCULATURE IN STROKE-LIKE EPISODES
Authors: GILCHRIST JM SIKIRICA M STOPA E SHANSKE S
Citation: Jm. Gilchrist et al., ADULT-ONSET MELAS - EVIDENCE FOR INVOLVEMENT OF NEURONS AS WELL AS CEREBRAL VASCULATURE IN STROKE-LIKE EPISODES, Stroke, 27(8), 1996, pp. 1420-1423
CLINICAL HETEROGENEITY ASSOCIATED WITH THE MITOCHONDRIAL-DNA T8993C POINT MUTATION
Authors: SANTORELLI FM MAK SC VAZQUEZMEMIJE ME SHANSKE S KRANZEBLE P JAIN KD BLUESTONE DL DEVIVO DC DIMAURO S
Citation: Fm. Santorelli et al., CLINICAL HETEROGENEITY ASSOCIATED WITH THE MITOCHONDRIAL-DNA T8993C POINT MUTATION, Pediatric research, 39(5), 1996, pp. 914-917
DIAGNOSIS OF MCARDLES-DISEASE BY MOLECULAR-GENETIC ANALYSIS OF BLOOD
Authors: ELSCHAHAWI M TSUJINO S SHANSKE S DIMAURO S
Citation: M. Elschahawi et al., DIAGNOSIS OF MCARDLES-DISEASE BY MOLECULAR-GENETIC ANALYSIS OF BLOOD, Neurology, 47(2), 1996, pp. 579-580
CLINICAL SPECTRUM IN 75 PATIENTS WITH THE MELAS A3243G MITOCHONDRIAL-DNA MUTATION
Authors: SHANSKE S HIRANO M SANTORELLI FM KULIKOVA R XIA W DEVIVO DC DIMAURO S
Citation: S. Shanske et al., CLINICAL SPECTRUM IN 75 PATIENTS WITH THE MELAS A3243G MITOCHONDRIAL-DNA MUTATION, Neurology, 46(2), 1996, pp. 3012-3012
COENZYME-Q10 DEFICIENCY IN A WOMAN WITH MYOPATHY, RECURRENT MYOGLOBINURIA, AND SEIZURES
Authors: HIRANO M SOBREIRA C SHANSKE S KELLER K HALLER R DAVIDSON E BONILLA E DIMAURO S
Citation: M. Hirano et al., COENZYME-Q10 DEFICIENCY IN A WOMAN WITH MYOPATHY, RECURRENT MYOGLOBINURIA, AND SEIZURES, Neurology, 46(2), 1996, pp. 3014-3014
THE VARIETY AND FREQUENCY OF MTDNA ABNORMALITIES IN LEIGH-SYNDROME
Authors: THYAGARAJAN D SANTORELLI FM FROMENTY B SHANSKE S DEVIVO D DIMAURO S
Citation: D. Thyagarajan et al., THE VARIETY AND FREQUENCY OF MTDNA ABNORMALITIES IN LEIGH-SYNDROME, Neurology, 46(2), 1996, pp. 8001-8001
MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS WITH FINDINGS OF MULTIPLE DELETIONS IN MITOCHONDRIAL-DNA
Authors: BLUMENTHAL D JAYNES M BODENSTEINER JB SHANSKE S DIMAURO S
Citation: D. Blumenthal et al., MYOCLONUS EPILEPSY WITH RAGGED-RED FIBERS WITH FINDINGS OF MULTIPLE DELETIONS IN MITOCHONDRIAL-DNA, Neurology, 46(2), 1996, pp. 12004-12004
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY
Authors: MARTINUZZI A TSUJINO S VERGANI L SCHIEVANO G CADALDINI M BARTOLONI L FANIN M SICILIANO G SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY, Journal of the neurological sciences, 137(1), 1996, pp. 14-19
MATERNALLY INHERITED CARDIOMYOPATHY AND HEARING-LOSS ASSOCIATED WITH A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(LYS) GENE (G8363A)
Authors: SANTORELLI FM MAK SC ELSCHAHAWI M CASALI C SHANSKE S BARAM TZ MADRID RE DIMAURO S
Citation: Fm. Santorelli et al., MATERNALLY INHERITED CARDIOMYOPATHY AND HEARING-LOSS ASSOCIATED WITH A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(LYS) GENE (G8363A), American journal of human genetics, 58(5), 1996, pp. 933-939
2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: TSUJINO S SHANSKE S MARTINUZZI A HEIMANPATTERSON T DIMAURO S
Citation: S. Tsujino et al., 2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), Human mutation, 6(3), 1995, pp. 276-277
Risultati: 1-25 | 26-50 | 51-75 | 76-96