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Results: 1-25 | 26-50 | 51-56
Results: 1-25/56
INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES
Authors: BARTH PG WANDERS RJA RUITENBEEK W ROE C SCHOLTE HR VANDERHARTEN H VANMOORSEL J DURAN M DINGEMANS KP
Citation: Pg. Barth et al., INFANTILE FIBER-TYPE DISPROPORTION, MYOFIBRILLAR LYSIS AND CARDIOMYOPATHY - A DISORDER IN 3 UNRELATED DUTCH FAMILIES, Neuromuscular disorders, 8(5), 1998, pp. 296-304
MOLECULAR CHARACTERIZATION AND MUTATIONAL ANALYSIS OF THE HUMAN B17 SUBUNIT OF THE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX I
Authors: SMEITINK J LOEFFEN J SMEETS R TRIEPELS R RUITENBEEK W TRIJBELS F VANDENHEUVEL L
Citation: J. Smeitink et al., MOLECULAR CHARACTERIZATION AND MUTATIONAL ANALYSIS OF THE HUMAN B17 SUBUNIT OF THE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX I, Human genetics, 103(2), 1998, pp. 245-250
CYTOARCHITECTURAL AND METABOLIC ADAPTATIONS IN MUSCLES WITH MITOCHONDRIAL AND CYTOSOLIC CREATINE-KINASE DEFICIENCIES
Authors: STEEGHS K OERLEMANS F DEHAAN A HEERSCHAP A VERDOODT L DEBIE M RUITENBEEK W BENDERS A JOST C VANDEURSEN J TULLSON P TERJUNG R JAP P JACOB W PETTE D WIERINGA B
Citation: K. Steeghs et al., CYTOARCHITECTURAL AND METABOLIC ADAPTATIONS IN MUSCLES WITH MITOCHONDRIAL AND CYTOSOLIC CREATINE-KINASE DEFICIENCIES, Molecular and cellular biochemistry, 184(1-2), 1998, pp. 183-194
SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS
Authors: RUBIOGOZALBO ME RUITENBEEK W WENDEL U SENGERS RCA TRIJBELS JMF SMEITINK JAM
Citation: Me. Rubiogozalbo et al., SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS, Neuropediatrics, 29(1), 1998, pp. 43-45
HUMAN MITOCHONDRIAL TRANSMEMBRANE METABOLITE CARRIERS - TISSUE DISTRIBUTION AND ITS IMPLICATION FOR MITOCHONDRIAL DISORDERS
Authors: HUIZING M RUITENBEEK W VANDENHEUVEL LP DOLCE V IACOBAZZI V SMEITINK JAM PALMIERI F TRIJBELS JMF
Citation: M. Huizing et al., HUMAN MITOCHONDRIAL TRANSMEMBRANE METABOLITE CARRIERS - TISSUE DISTRIBUTION AND ITS IMPLICATION FOR MITOCHONDRIAL DISORDERS, Journal of bioenergetics and biomembranes, 30(3), 1998, pp. 277-284
IN-VIVO METHODS USEFUL FOR THERAPY MONITORING IN LACTIC-ACIDOSIS
Authors: SCHULZE A MAYATEPEK E LANGHANS CD BACHERT P RUITENBEEK W RATING D
Citation: A. Schulze et al., IN-VIVO METHODS USEFUL FOR THERAPY MONITORING IN LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 21(6), 1998, pp. 691-692
THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION
Authors: LOEFFEN J SMEETS R SMEITINK J RUITENBEEK W JANSSEN A MARIMAN E SENGERS R TRIJBELS F VANDENHEUVEL L
Citation: J. Loeffen et al., THE X-CHROMOSOMAL NDUFA1 GENE OF COMPLEX-I IN MITOCHONDRIAL ENCEPHALOMYOPATHIES - TISSUE EXPRESSION AND MUTATION DETECTION, Journal of inherited metabolic disease, 21(3), 1998, pp. 210-215
CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT
Authors: HUIZING M WENDEL U RUITENBEEK W IACOBAZZI V IJLST L VEENHUIZEN P SAVELKOUL P VANDENHEUVEL LP SMEITINK JAM WANDERS RJA TRIJBELS JMF PALMIERI F
Citation: M. Huizing et al., CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT, Journal of inherited metabolic disease, 21(3), 1998, pp. 262-267
PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/
Authors: WILICHOWSKI E KORENKE GC RUITENBEEK W DEMEIRLEIR L HAGENDORFF A JANSSEN AJM LISSENS W HANEFELD F
Citation: E. Wilichowski et al., PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/, Journal of the neurological sciences, 157(2), 1998, pp. 206-213
DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT
Authors: VANDENHEUVEL L RUITENBEEK W SMEETS R GELMANKOHAN Z ELPELEG O LOEFFEN J TRIJBELS F MARIMAN E DEBRUIJN D SMEITINK J
Citation: L. Vandenheuvel et al., DEMONSTRATION OF A NEW PATHOGENIC MUTATION IN HUMAN COMPLEX-I DEFICIENCY - A 5-BP DUPLICATION IN THE NUCLEAR GENE ENCODING THE 18-KD (AQDQ)SUBUNIT, American journal of human genetics, 62(2), 1998, pp. 262-268
THE VOLTAGE-DEPENDENT ANION CHANNEL (VDAC) IN HUMAN MITOCHONDRIAL DISORDERS
Authors: HUIZING M RUITENBEEK W DEPINTO V THINNES F TRIJBELS JMF VANDENHEUVEL LP SMEITINK JAM
Citation: M. Huizing et al., THE VOLTAGE-DEPENDENT ANION CHANNEL (VDAC) IN HUMAN MITOCHONDRIAL DISORDERS, The FASEB journal, 11(9), 1997, pp. 649-649
INVOLVEMENT OF MITOCHONDRIAL-MEMBRANE CARRIERS IN HUMAN (ENCEPHALO-)MYOPATHIES
Authors: RUITENBEEK W HUIZING M PALMIERI F TRIJBELS JMF VANDENHEUVEL LP SMEITINK JAM
Citation: W. Ruitenbeek et al., INVOLVEMENT OF MITOCHONDRIAL-MEMBRANE CARRIERS IN HUMAN (ENCEPHALO-)MYOPATHIES, The FASEB journal, 11(9), 1997, pp. 650-650
NEW FAMILIAL MITOCHONDRIAL ENCEPHALOPATHY WITH MACROCEPHALY, CARDIOMYOPATHY, AND COMPLEX-I DEFICIENCY
Authors: DIONISIVICI C RUITENBEEK W FARIELLO G BENTLAGE H WANDERS RJA SCHAGGER H BOSMAN C PIANTADOSI C SABETTA G BERTINI E
Citation: C. Dionisivici et al., NEW FAMILIAL MITOCHONDRIAL ENCEPHALOPATHY WITH MACROCEPHALY, CARDIOMYOPATHY, AND COMPLEX-I DEFICIENCY, Annals of neurology, 42(4), 1997, pp. 661-665
FAVORABLE CLINICAL COURSE IN AN INFANT WITH SEVERE DEFICIENCY OF COMPLEX-III OF THE RESPIRATORY-CHAIN COMBINED WITH LESS SEVERE DEFICIENCIES OF COMPLEX-I, COMPLEX-II AND COMPLEX-IV
Authors: RUBIOGOZALBO ME RUITENBEEK W BENTLAGE HACM SCHAGGER H SENGERS RCA TRIJBELS JMF TERLAAK HJ MARIMAN ECM BAKKER MM DEJAGER J SMEITINK JAM
Citation: Me. Rubiogozalbo et al., FAVORABLE CLINICAL COURSE IN AN INFANT WITH SEVERE DEFICIENCY OF COMPLEX-III OF THE RESPIRATORY-CHAIN COMBINED WITH LESS SEVERE DEFICIENCIES OF COMPLEX-I, COMPLEX-II AND COMPLEX-IV, European journal of pediatrics, 156(12), 1997, pp. 931-934
DEFECTS IN THE MITOCHONDRIAL ENERGY-METABOLISM OUTSIDE THE RESPIRATORY-CHAIN AND THE PYRUVATE-DEHYDROGENASE COMPLEX
Authors: TRIJBELS FJM RUITENBEEK W HUIZING M WENDEL U SMEITINK JAM SENGERS RCA
Citation: Fjm. Trijbels et al., DEFECTS IN THE MITOCHONDRIAL ENERGY-METABOLISM OUTSIDE THE RESPIRATORY-CHAIN AND THE PYRUVATE-DEHYDROGENASE COMPLEX, Molecular and cellular biochemistry, 174(1-2), 1997, pp. 243-247
USE OF GENE TARGETING FOR COMPROMISING ENERGY HOMEOSTASIS IN NEUROMUSCULAR TISSUES - THE ROLE OF SARCOMERIC MITOCHONDRIAL CREATINE-KINASE
Authors: STEEGHS K HEERSCHAP A DEHAAN A RUITENBEEK W OERLEMANS F VANDEURSEN J PERRYMAN B PETTE D BRUCKWILDER M KOUDIJS J JAP P WIERINGA B
Citation: K. Steeghs et al., USE OF GENE TARGETING FOR COMPROMISING ENERGY HOMEOSTASIS IN NEUROMUSCULAR TISSUES - THE ROLE OF SARCOMERIC MITOCHONDRIAL CREATINE-KINASE, Journal of neuroscience methods, 71(1), 1997, pp. 29-41
LIPOAMIDE DEHYDROGENASE-DEFICIENCY - A NEW CAUSE FOR RECURRENT MYOGLOBINURIA
Authors: ELPELEG ON SAADA AB SHAAG A GLUSTEIN JZ RUITENBEEK W TEIN I HALEVY J
Citation: On. Elpeleg et al., LIPOAMIDE DEHYDROGENASE-DEFICIENCY - A NEW CAUSE FOR RECURRENT MYOGLOBINURIA, Muscle & nerve, 20(2), 1997, pp. 238-240
ALTERED CA2-KINASE DEFICIENCIES( RESPONSES IN MUSCLES WITH COMBINED MITOCHONDRIAL AND CYTOSOLIC CREATINE)
Authors: STEEGHS K BENDERS A OERLEMANS F DEHAAN A HEERSCHAP A RUITENBEEK W JOST C VANDEURSEN J PERRYMAN B PETTE D BRUCKWILDER M KOUDIJS J JAP P VEERKAMP J WIERINGA B
Citation: K. Steeghs et al., ALTERED CA2-KINASE DEFICIENCIES( RESPONSES IN MUSCLES WITH COMBINED MITOCHONDRIAL AND CYTOSOLIC CREATINE), Cell, 89(1), 1997, pp. 93-103
CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD
Authors: MOURMANS J WENDEL U BENTLAGE HACM TRIJBELS JMF SMEITINK JAM DECOO IFM GABREELS FJM SENGERS RCA RUITENBEEK W
Citation: J. Mourmans et al., CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD, Journal of the neurological sciences, 149(1), 1997, pp. 111-117
CLONING OF THE HUMAN CARNITINE-ACYLCARNITINE CARRIER CDNA AND IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT
Authors: HUIZING M IACOBAZZI V IJLST L SAVELKOUL P RUITENBEEK W VANDENHEUVEL L INDIVERI C SMEITINK J TRIJBELS F WANDERS R PALMIERI F
Citation: M. Huizing et al., CLONING OF THE HUMAN CARNITINE-ACYLCARNITINE CARRIER CDNA AND IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT, American journal of human genetics, 61(6), 1997, pp. 1239-1245
MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN
Authors: BUDDIGER PAL RUITENBEEK W SCHOLTE HR VANOOST BA SMEETS HJM DECOO IFM
Citation: Pal. Buddiger et al., MOLECULAR-GENETIC ANALYSIS OF COMPLEX-I GENES IN PATIENTS WITH A DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN, American journal of human genetics, 61(4), 1997, pp. 1779-1779
PARKINSONISM-MELAS OVERLAP SYNDROME-ASSOCIATED WITH A MITOCHONDRIAL CYTOCHROME-B FRAMESHIFT MUTATION
Authors: DECOO RFM RENIER WO RUITENBEEK W TERLAAK HJ BAKKER M VANOOST BA SMEETS HJM
Citation: Rfm. Decoo et al., PARKINSONISM-MELAS OVERLAP SYNDROME-ASSOCIATED WITH A MITOCHONDRIAL CYTOCHROME-B FRAMESHIFT MUTATION, American journal of human genetics, 61(4), 1997, pp. 1790-1790
MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
Authors: LISSENS W DEMEIRLEIR L SENECA S BENELLI C MARSAC C POLLTHE BT BRIONES P RUITENBEEK W VANDIGGELEN O CHAIGNE D RAMAEKERS V LIEBAERS I
Citation: W. Lissens et al., MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY, Human mutation, 7(1), 1996, pp. 46-51
ELECTROPHORETIC SEPARATION OF MULTIPROTEIN COMPLEXES FROM BLOOD-PLATELETS AND CELL-LINES - TECHNIQUE FOR THE ANALYSIS OF DISEASES WITH DEFECTS IN OXIDATIVE-PHOSPHORYLATION
Authors: SCHAGGER H BENTLAGE H RUITENBEEK W PFEIFFER K ROTTER S ROTHER C BOTTCHERPURKL A LODEMANN E
Citation: H. Schagger et al., ELECTROPHORETIC SEPARATION OF MULTIPROTEIN COMPLEXES FROM BLOOD-PLATELETS AND CELL-LINES - TECHNIQUE FOR THE ANALYSIS OF DISEASES WITH DEFECTS IN OXIDATIVE-PHOSPHORYLATION, Electrophoresis, 17(4), 1996, pp. 709-714
IMPORTANCE OF MITOCHONDRIAL TRANSMEMBRANE PROCESSES IN HUMAN MITOCHONDRIOPATHIES
Authors: HUIZING M DEPINTO V RUITENBEEK W TRIJBELS FJM VANDENHEUVEL LP WENDEL U
Citation: M. Huizing et al., IMPORTANCE OF MITOCHONDRIAL TRANSMEMBRANE PROCESSES IN HUMAN MITOCHONDRIOPATHIES, Journal of bioenergetics and biomembranes, 28(2), 1996, pp. 109-114
Risultati: 1-25 | 26-50 | 51-56