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Results: 1-12 |
Results: 12
A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE - A RISK FACTOR FOR NEURAL-TUBE DEFECTS
Authors: VANDERPUT N GABREELS F STEVENS E SMEITINK J TRIJBELS F ESKES T VANDENHEUVEL L BLOM H
Citation: N. Vanderput et al., A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE - A RISK FACTOR FOR NEURAL-TUBE DEFECTS, The FASEB journal, 12(4), 1998, pp. 3197-3197
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
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
CDNA SEQUENCE AND CHROMOSOMAL LOCALIZATION OF THE REMAINING 3 HUMAN NUCLEAR-ENCODED IRON-SULFUR PROTEIN (IP) SUBUNITS OF COMPLEX-I - THE HUMAN IP FRACTION IS COMPLETED
Authors: LOEFFEN J VANDENHEUVEL L SMEETS R TRIEPELS R SENGERS R TRIJBELS F SMEITINK J
Citation: J. Loeffen et al., CDNA SEQUENCE AND CHROMOSOMAL LOCALIZATION OF THE REMAINING 3 HUMAN NUCLEAR-ENCODED IRON-SULFUR PROTEIN (IP) SUBUNITS OF COMPLEX-I - THE HUMAN IP FRACTION IS COMPLETED, Biochemical and biophysical research communications (Print), 247(3), 1998, pp. 751-758
CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION
Authors: SCHUELKE M LOEFFEN J MARIMAN E SMEITINK J VANDENHEUVEL L
Citation: M. Schuelke et al., CLONING OF THE HUMAN MITOCHONDRIAL 51 KDA SUBUNIT (NDUFV1) REVEALS A 100-PERCENT ANTISENSE HOMOLOGY OF ITS 3'UTR WITH THE 5'UTR OF THE GAMMA-INTERFERON INDUCIBLE PROTEIN (IP-30) PRECURSOR - IS THIS A LINK BETWEEN MITOCHONDRIAL MYOPATHY AND INFLAMMATION, Biochemical and biophysical research communications, 245(2), 1998, pp. 599-606
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
NEW TREATMENT STRATEGY FOR SMITH-LEMLI-OPITZ SYNDROME
Authors: JIRA P WEVERS R DEJONG J RUBIOGOZALBO E SMEITINK J
Citation: P. Jira et al., NEW TREATMENT STRATEGY FOR SMITH-LEMLI-OPITZ SYNDROME, Lancet, 349(9060), 1997, pp. 1222-1222
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
DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY
Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM SMEITINK J POLLTHE BT VANAMSTEL JKP BERGER R
Citation: Iet. Vandenberg et al., DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1334-1334
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD) CAUSED BY A A208T MUTATION
Authors: BAKKER E AUSEMS M ZAREMBA J KOWALCZYK J ROKICKY D KNEPPERS ALJ HE W KEULEMANS JLM SMEITINK J VANDIGGELEN OP
Citation: E. Bakker et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD) CAUSED BY A A208T MUTATION, American journal of human genetics, 57(4), 1995, pp. 1360-1360
LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2)
Authors: HENDRICKX J COUCKE P HORSCAYLA MC SMIT GPA SHIN YS DEUTSCH J SMEITINK J BERGER R LEE P FERNANDES J WILLEMS PJ
Citation: J. Hendrickx et al., LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2), Genomics, 21(3), 1994, pp. 620-625
MITOCHONDRIAL CREATINE-KINASE ACTIVITY IN PATIENTS WITH DISTURBED ENERGY GENERATION IN MUSCLE MITOCHONDRIA
Authors: SMEITINK J RUITENBEEK W SENGERS R WEVERS R VONLITH T TRIJBELS F
Citation: J. Smeitink et al., MITOCHONDRIAL CREATINE-KINASE ACTIVITY IN PATIENTS WITH DISTURBED ENERGY GENERATION IN MUSCLE MITOCHONDRIA, Journal of inherited metabolic disease, 17(1), 1994, pp. 67-73
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