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BIOCHEMISTRY AND MOLECULAR-GENETICS OF HUMAN GLYCOGENOSES - AN OVERVIEW
Authors: DIMAURO S TSUJINO S SHANSKE S ROWLAND LP
Citation: S. Dimauro et al., BIOCHEMISTRY AND MOLECULAR-GENETICS OF HUMAN GLYCOGENOSES - AN OVERVIEW, Muscle & nerve, 1995, pp. 10-17
THE MOLECULAR-GENETIC BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: TSUJINO S SHANSKE S NONAKA I DIMAURO S
Citation: S. Tsujino et al., THE MOLECULAR-GENETIC BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), Muscle & nerve, 1995, pp. 23-27
MOLECULAR-GENETIC HETEROGENEITY OF PHOSPHOGLYCERATE KINASE (PGK) DEFICIENCY
Authors: TSUJINO S SHANSKE S DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-GENETIC HETEROGENEITY OF PHOSPHOGLYCERATE KINASE (PGK) DEFICIENCY, Muscle & nerve, 1995, pp. 45-49
MOLECULAR-GENETIC STUDIES IN MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCY
Authors: TSUJINO S SHANSKE S SAKODA S TOSCANO A DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-GENETIC STUDIES IN MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCY, Muscle & nerve, 1995, pp. 50-53
MYOPHOSPHORYLASE DEFICIENCY ASSOCIATED WITH RHABDOMYOLYSIS AND EXERCISE INTOLERANCE IN 6 RELATED CHAROLAIS CATTLE
Authors: ANGELOS S VALBERG SJ SMITH BP MCQUARRIE PS SHANSKE S TSUJINO S DIMAURO S CARDINET GH
Citation: S. Angelos et al., MYOPHOSPHORYLASE DEFICIENCY ASSOCIATED WITH RHABDOMYOLYSIS AND EXERCISE INTOLERANCE IN 6 RELATED CHAROLAIS CATTLE, Muscle & nerve, 18(7), 1995, pp. 736-740
GENETIC-CHARACTERIZATION OF AMERICAN PATIENTS WITH CPTII DEFICIENCY
Authors: KAUFMANN P TSUJINO S SHANSKE S TARONI F DIDONATO SS DIMAURO S
Citation: P. Kaufmann et al., GENETIC-CHARACTERIZATION OF AMERICAN PATIENTS WITH CPTII DEFICIENCY, Neurology, 45(4), 1995, pp. 284-284
AN A-TO-C SUBSTITUTION INVOLVING THE TRANSLATION INITIATION CODON IN A PATIENT WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: TSUJINO S RUBIN LA SHANSKE S DIMAURO S
Citation: S. Tsujino et al., AN A-TO-C SUBSTITUTION INVOLVING THE TRANSLATION INITIATION CODON IN A PATIENT WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), Human mutation, 4(1), 1994, pp. 73-75
2 MUTATIONS, ONE NOVEL AND ONE FREQUENTLY OBSERVED, IN JAPANESE PATIENTS WITH MCARDLES-DISEASE
Authors: TSUJINO S SHANSKE S GOTO Y NONAKA I DIMAURO S
Citation: S. Tsujino et al., 2 MUTATIONS, ONE NOVEL AND ONE FREQUENTLY OBSERVED, IN JAPANESE PATIENTS WITH MCARDLES-DISEASE, Human molecular genetics, 3(6), 1994, pp. 1005-1006
ABERRANT SPLICING IN ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII) - MOLECULAR-IDENTIFICATION OF AN IVS1 (-13T-]G) MUTATION IN A MAJORITY OF PATIENTS AND A NOVEL IVS10 (-]CT) MUTATION(1GT)
Authors: HUIE ML CHEN AS TSUJINO S SHANSKE S DIMAURO S ENGEL AG HIRSCHHORN R
Citation: Ml. Huie et al., ABERRANT SPLICING IN ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII) - MOLECULAR-IDENTIFICATION OF AN IVS1 (-13T-]G) MUTATION IN A MAJORITY OF PATIENTS AND A NOVEL IVS10 (-]CT) MUTATION(1GT), Human molecular genetics, 3(12), 1994, pp. 2231-2236
MOLECULAR-GENETIC STUDIES OF MUSCLE LACTATE-DEHYDROGENASE DEFICIENCY IN WHITE PATIENTS
Authors: TSUJINO S SHANSKE S BROWNELL AKW HALLER RG DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-GENETIC STUDIES OF MUSCLE LACTATE-DEHYDROGENASE DEFICIENCY IN WHITE PATIENTS, Annals of neurology, 36(4), 1994, pp. 661-665
A SPLICE JUNCTION MUTATION IN A NEW MYOPATHIC VARIANT OF PHOSPHOGLYCERATE KINASE-DEFICIENCY (PGK NORTH-CAROLINA)
Authors: TSUJINO S TONIN P SHANSKE S NOHRIA V BOUSTANY RM LEWIS D CHEN YT DIMAURO S
Citation: S. Tsujino et al., A SPLICE JUNCTION MUTATION IN A NEW MYOPATHIC VARIANT OF PHOSPHOGLYCERATE KINASE-DEFICIENCY (PGK NORTH-CAROLINA), Annals of neurology, 35(3), 1994, pp. 349-353
PHOSPHOGLYCERATE KINASE-DEFICIENCY - REPLY
Authors: TONIN P SHANSKE S TSUJINO S DIMAURO S
Citation: P. Tonin et al., PHOSPHOGLYCERATE KINASE-DEFICIENCY - REPLY, Neurology, 44(7), 1994, pp. 1365-1365
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS
Authors: MARTINUZZI A TSUJINO S BARTOLONI L CARROZZO R SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS, Neurology, 44(4), 1994, pp. 10000284-10000285
2 NOVEL MUTATIONS IN CAUCASIAN PATIENTS WITH MUSCLE LACTATE-DEHYDROGENASE (LDH-A) DEFICIENCY
Authors: TSUJINO S SHANSKE S BROWNELL AKW HALLER RG DIMAURO S
Citation: S. Tsujino et al., 2 NOVEL MUTATIONS IN CAUCASIAN PATIENTS WITH MUSCLE LACTATE-DEHYDROGENASE (LDH-A) DEFICIENCY, Neurology, 44(4), 1994, pp. 10000286-10000286
MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA
Authors: KRISTJANSSON K TSUJINO S DIMAURO S
Citation: K. Kristjansson et al., MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA, The Journal of pediatrics, 125(3), 1994, pp. 409-410
CONTROL OF ELECTRON POPULATION BY INTERSUBBAND OPTICAL-EXCITATION IN POTENTIAL-INSERTED DOUBLE-QUANTUM-WELL STRUCTURES
Authors: AKIYAMA H SUGAWARA H KADOYA Y LORKE A TSUJINO S SAKAKI H
Citation: H. Akiyama et al., CONTROL OF ELECTRON POPULATION BY INTERSUBBAND OPTICAL-EXCITATION IN POTENTIAL-INSERTED DOUBLE-QUANTUM-WELL STRUCTURES, Applied physics letters, 65(4), 1994, pp. 424-426
IDENTIFICATION OF 3 NOVEL MUTATIONS IN NON-ASHKENAZI ITALIAN PATIENTSWITH MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
Authors: TSUJINO S SERVIDEI S TONIN P SHANSKE S AZAN G DIMAURO S
Citation: S. Tsujino et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN NON-ASHKENAZI ITALIAN PATIENTSWITH MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY, American journal of human genetics, 54(5), 1994, pp. 812-819
3 NEW MUTATIONS IN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLEDISEASE)
Authors: TSUJINO S SHANSKE S NONAKA I ETO Y MENDELL JR FENICHEL GM DIMAURO S
Citation: S. Tsujino et al., 3 NEW MUTATIONS IN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLEDISEASE), American journal of human genetics, 54(1), 1994, pp. 44-52
FORMATION OF AN INTERMETALLIC COMPOUND PD3TE WITH DEACTIVATION OF TE PD/C CATALYSTS FOR SELECTIVE OXIDATION OF SODIUM LACTATE TO PYRUVATE IN AQUEOUS-PHASE/
Authors: HAYASHI H SUGIYAMA S SHIGEMOTO N MIYAURA K TSUJINO S KAWASHIRO K UEMURA S
Citation: H. Hayashi et al., FORMATION OF AN INTERMETALLIC COMPOUND PD3TE WITH DEACTIVATION OF TE PD/C CATALYSTS FOR SELECTIVE OXIDATION OF SODIUM LACTATE TO PYRUVATE IN AQUEOUS-PHASE/, Catalysis letters, 19(4), 1993, pp. 369-373
MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: TSUJINO S SHANSKE S DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-GENETIC HETEROGENEITY OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), The New England journal of medicine, 329(4), 1993, pp. 241-245
MOLECULAR-BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES DISEASE)
Authors: TSUJINO S SHANSKE S DIMAURO S
Citation: S. Tsujino et al., MOLECULAR-BASIS OF MYOPHOSPHORYLASE DEFICIENCY (MCARDLES DISEASE), Neurology, 43(4), 1993, pp. 279-279
MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN AN ITALIAN KINDRED
Authors: TOSCANO A TSUJINO S VITA G SHANSKE S DIMAURO S MESSINA C
Citation: A. Toscano et al., MOLECULAR-BASIS OF MUSCLE PHOSPHOGLYCERATE MUTASE (PGAM-M) DEFICIENCYIN AN ITALIAN KINDRED, Neurology, 43(4), 1993, pp. 279-279
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