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Results: 1-25 | 26-30
Results: 1-25/30
MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE)
Authors: BURWINKEL B BAKKER HD HERSCHKOVITZ E MOSES SW SHIN YS KILIMANN MW
Citation: B. Burwinkel et al., MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE), American journal of human genetics, 62(4), 1998, pp. 785-791
LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY - PHKG2 GENE STRUCTURE AND MUTATIONS ASSOCIATED WITH CIRRHOSIS
Authors: BURWINKEL B SHIOMI S ALZABEN A KILIMANN MW
Citation: B. Burwinkel et al., LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY - PHKG2 GENE STRUCTURE AND MUTATIONS ASSOCIATED WITH CIRRHOSIS, Human molecular genetics, 7(1), 1998, pp. 149-154
STRUCTURE OF THE HUMAN PARALEMMIN GENE (PALM), MAPPING TO HUMAN-CHROMOSOME 19P13.3 AND MOUSE-CHROMOSOME-10, AND EXCLUSION OF CODING MUTATIONS IN GRIZZLED, MOCHA, JITTERY, AND HESITANT MICE
Authors: BURWINKEL B MIGLIERINI G JENNE DE GILBERT DJ COPELAND NG JENKINS NA RING HZ FRANCKE U KILIMANN MW
Citation: B. Burwinkel et al., STRUCTURE OF THE HUMAN PARALEMMIN GENE (PALM), MAPPING TO HUMAN-CHROMOSOME 19P13.3 AND MOUSE-CHROMOSOME-10, AND EXCLUSION OF CODING MUTATIONS IN GRIZZLED, MOCHA, JITTERY, AND HESITANT MICE, Genomics, 49(3), 1998, pp. 462-466
MUTATION ANALYSIS IN MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
Authors: VORGERD M KUBISCH C BURWINKEL B REICHMANN H MORTIER W TETTENBORN B PONGRATZ D LINDEMUTH R TEGENTHOFF M MALIN JP KILIMANN MW
Citation: M. Vorgerd et al., MUTATION ANALYSIS IN MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE), Annals of neurology, 43(3), 1998, pp. 326-331
VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE
Authors: BURWINKEL B AMAT L GRAY RGF MATSUO N MUROYA K NARISAWA K SOKOL RJ VILASECA MA KILIMANN MW
Citation: B. Burwinkel et al., VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE, Human genetics, 102(4), 1998, pp. 423-429
UNEQUAL HOMOLOGOUS RECOMBINATION BETWEEN LINE-1 ELEMENTS AS A MUTATIONAL MECHANISM IN HUMAN GENETIC-DISEASE
Authors: BURWINKEL B KILIMANN MW
Citation: B. Burwinkel et Mw. Kilimann, UNEQUAL HOMOLOGOUS RECOMBINATION BETWEEN LINE-1 ELEMENTS AS A MUTATIONAL MECHANISM IN HUMAN GENETIC-DISEASE, Journal of Molecular Biology, 277(3), 1998, pp. 513-517
PARALEMMIN, A PRENYL-PALMITOYL-ANCHORED PHOSPHOPROTEIN ABUNDANT IN NEURONS AND IMPLICATED IN PLASMA-MEMBRANE DYNAMICS AND CELL PROCESS FORMATION
Authors: KUTZLEB C SANDERS G YAMAMOTO R WANG XL LICHTE B PETRASCHPARWEZ E KILIMANN MW
Citation: C. Kutzleb et al., PARALEMMIN, A PRENYL-PALMITOYL-ANCHORED PHOSPHOPROTEIN ABUNDANT IN NEURONS AND IMPLICATED IN PLASMA-MEMBRANE DYNAMICS AND CELL PROCESS FORMATION, The Journal of cell biology, 143(3), 1998, pp. 795-813
AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB)
Authors: BURWINKEL B MAICHELE AJ AAGENAES O BAKKER HD LERNER A SHIN YS STRACHAN JA KILIMANN MW
Citation: B. Burwinkel et al., AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB), Human molecular genetics, 6(7), 1997, pp. 1109-1115
IDENTIFICATION OF 2 NEW MU-ADAPTIN-RELATED PROTEINS, MU-ARP1 AND MU-ARP2
Authors: WANG XL KILIMANN MW
Citation: Xl. Wang et Mw. Kilimann, IDENTIFICATION OF 2 NEW MU-ADAPTIN-RELATED PROTEINS, MU-ARP1 AND MU-ARP2, Chinese medical journal, 110(12), 1997, pp. 906-906
PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB)
Authors: BURWINKEL B MOSES SW KILIMANN MW
Citation: B. Burwinkel et al., PHOSPHORYLASE-KINASE-DEFICIENT LIVER GLYCOGENOSIS WITH AN UNUSUAL BIOCHEMICAL PHENOTYPE IN BLOOD-CELLS ASSOCIATED WITH A MISSENSE MUTATION IN THE BETA-SUBUNIT GENE (PHKB), Human genetics, 101(2), 1997, pp. 170-174
DIFFERENTIAL REGULATION OF GENES ENCODING SYNAPTIC PROTEINS BY THE OCT-2 TRANSCRIPTION FACTOR
Authors: DEANS ZC DAWSON SJ KILIMANN MW WALLACE D WILSON MC LATCHMAN DS
Citation: Zc. Deans et al., DIFFERENTIAL REGULATION OF GENES ENCODING SYNAPTIC PROTEINS BY THE OCT-2 TRANSCRIPTION FACTOR, Molecular brain research, 51(1-2), 1997, pp. 1-7
AMPHIPHYSIN AUTOANTIBODIES - A PARANEOPLASTIC SEROLOGICAL MARKER OF BREAST AND LUNG-CANCER RELATED ENCEPHALOMYELORADICULONEURITIDES BUT NOTCLASSICAL STIFF-MAN SYNDROME
Authors: LENNON VA MANLEY HA KIM KK PARISI JE KILIMANN MW BENARROCH EE
Citation: Va. Lennon et al., AMPHIPHYSIN AUTOANTIBODIES - A PARANEOPLASTIC SEROLOGICAL MARKER OF BREAST AND LUNG-CANCER RELATED ENCEPHALOMYELORADICULONEURITIDES BUT NOTCLASSICAL STIFF-MAN SYNDROME, Neurology, 48(3), 1997, pp. 6108-6108
IDENTIFICATION OF 2 NEW MU-ADAPTIN-RELATED PROTEINS, MU-ARP1 AND MU-ARP2
Authors: WANG XL KILIMANN MW
Citation: Xl. Wang et Mw. Kilimann, IDENTIFICATION OF 2 NEW MU-ADAPTIN-RELATED PROTEINS, MU-ARP1 AND MU-ARP2, FEBS letters, 402(1), 1997, pp. 57-61
MUTATIONS IN THE TESTIS LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG2) CAUSE AUTOSOMAL LIVER GLYCOGENOSIS IN THE GSD RAT AND IN HUMANS/
Authors: MAICHELE AJ BURWINKEL B MAIRE I SOVIK O KILIMANN MW
Citation: Aj. Maichele et al., MUTATIONS IN THE TESTIS LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG2) CAUSE AUTOSOMAL LIVER GLYCOGENOSIS IN THE GSD RAT AND IN HUMANS/, Nature genetics, 14(3), 1996, pp. 337-340
MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2)
Authors: BURWINKEL B SHIN YS BAKKER HD DEUTSCH J LOZANO MJ MAIRE I KILIMANN MW
Citation: B. Burwinkel et al., MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2), Human molecular genetics, 5(5), 1996, pp. 653-658
DIFFERENTIAL REGULATION OF GENES ENCODING SYNAPTIC PROTEINS BY MEMBERS OF THE BRN-3 SUBFAMILY OF POU TRANSCRIPTION FACTORS
Authors: MORRIS PJ LAKIN ND DAWSON SJ RYABININ AE KILIMANN MW WILSON MC LATCHMAN DS
Citation: Pj. Morris et al., DIFFERENTIAL REGULATION OF GENES ENCODING SYNAPTIC PROTEINS BY MEMBERS OF THE BRN-3 SUBFAMILY OF POU TRANSCRIPTION FACTORS, Molecular brain research, 43(1-2), 1996, pp. 279-285
STRUCTURE OF THE HUMAN GENE ENCODING THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB)
Authors: WULLRICHSCHMOLL A KILIMANN MW
Citation: A. Wullrichschmoll et Mw. Kilimann, STRUCTURE OF THE HUMAN GENE ENCODING THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB), European journal of biochemistry, 238(2), 1996, pp. 374-380
PRIMARY STRUCTURE OF HUMAN AMPHIPHYSIN, THE DOMINANT - AUTOANTIGEN OFPARANEOPLASTIC STIFF-MAN SYNDROME, AND MAPPING OF ITS GENE (AMPH) TO CHROMOSOME 7P13-P14
Authors: YAMAMOTO R LI X WINTER S FRANCKE U KILIMANN MW
Citation: R. Yamamoto et al., PRIMARY STRUCTURE OF HUMAN AMPHIPHYSIN, THE DOMINANT - AUTOANTIGEN OFPARANEOPLASTIC STIFF-MAN SYNDROME, AND MAPPING OF ITS GENE (AMPH) TO CHROMOSOME 7P13-P14, Human molecular genetics, 4(2), 1995, pp. 265-268
AMPHIPHYSIN (AMPH) MAPS TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-13
Authors: JENKINS NA GILBERT DJ YAMAMOTO R KILIMANN MW COPELAND NG
Citation: Na. Jenkins et al., AMPHIPHYSIN (AMPH) MAPS TO THE PROXIMAL REGION OF MOUSE CHROMOSOME-13, Genomics, 28(2), 1995, pp. 363-365
HUMAN CDNA-ENCODING THE MUSCLE ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG1)
Authors: WEHNER M KILIMANN MW
Citation: M. Wehner et Mw. Kilimann, HUMAN CDNA-ENCODING THE MUSCLE ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG1), Human genetics, 96(5), 1995, pp. 616-618
DINUCLEOTIDE REPEAT POLYMORPHISM WITHIN THE PHKA1 GENE AT XQ12-Q13
Authors: GOSSEN M WULLRICH A KILIMANN MW
Citation: M. Gossen et al., DINUCLEOTIDE REPEAT POLYMORPHISM WITHIN THE PHKA1 GENE AT XQ12-Q13, Human genetics, 95(4), 1995, pp. 469-470
PHYLOGENETIC CONSERVATION OF 4-AMINOBUTYRIC ACID (GABA) TRANSPORTER ISOFORMS - CLONING AND PHARMACOLOGICAL CHARACTERIZATION OF A GABA BETA-ALANINE TRANSPORTER FROM TORPEDO/
Authors: GUIMBAL C KLOSTERMANN A KILIMANN MW
Citation: C. Guimbal et al., PHYLOGENETIC CONSERVATION OF 4-AMINOBUTYRIC ACID (GABA) TRANSPORTER ISOFORMS - CLONING AND PHARMACOLOGICAL CHARACTERIZATION OF A GABA BETA-ALANINE TRANSPORTER FROM TORPEDO/, European journal of biochemistry, 234(3), 1995, pp. 794-800
GENETIC-MAPPING OF THE HUMAN AMPHIPHYSIN GENE (AMPH) AT 7P14-P13 EXCLUDES ITS INVOLVEMENT IN RETINITIS-PIGMENTOSA-9 OR DOMINANT CYSTOID MACULAR DYSTROPHY
Authors: YAMAMOTO R LI X FRANCKE U KILIMANN MW
Citation: R. Yamamoto et al., GENETIC-MAPPING OF THE HUMAN AMPHIPHYSIN GENE (AMPH) AT 7P14-P13 EXCLUDES ITS INVOLVEMENT IN RETINITIS-PIGMENTOSA-9 OR DOMINANT CYSTOID MACULAR DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 970-972
HUMAN MUSCLE GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY ASSOCIATED WITH A NONSENSE MUTATION IN THE MUSCLE ISOFORM OF THE ALPHA-SUBUNIT
Authors: WEHNER M CLEMENS PR ENGEL AG KILIMANN MW
Citation: M. Wehner et al., HUMAN MUSCLE GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY ASSOCIATED WITH A NONSENSE MUTATION IN THE MUSCLE ISOFORM OF THE ALPHA-SUBUNIT, Human molecular genetics, 3(11), 1994, pp. 1983-1987
A CREATINE TRANSPORTER CDNA FROM TORPEDO ILLUSTRATES STRUCTURE-FUNCTION-RELATIONSHIPS IN THE GABA NORADRENALINE TRANSPORTER FAMILY
Authors: GUIMBAL C KILIMANN MW
Citation: C. Guimbal et Mw. Kilimann, A CREATINE TRANSPORTER CDNA FROM TORPEDO ILLUSTRATES STRUCTURE-FUNCTION-RELATIONSHIPS IN THE GABA NORADRENALINE TRANSPORTER FAMILY, Journal of Molecular Biology, 241(2), 1994, pp. 317-324
Risultati: 1-25 | 26-30