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Results: 1-25 | 26-35
Results: 1-25/35
GENE REDUNDANCY AND PHARMACOLOGICAL GENE-THERAPY - IMPLICATIONS FOR X-LINKED ADRENOLEUKODYSTROPHY
Authors: KEMP S WEI HM LU JF BRAITERMAN LT MCGUINNESS MC MOSER AB WATKINS PA SMITH KD
Citation: S. Kemp et al., GENE REDUNDANCY AND PHARMACOLOGICAL GENE-THERAPY - IMPLICATIONS FOR X-LINKED ADRENOLEUKODYSTROPHY, Nature medicine, 4(11), 1998, pp. 1261-1268
SUPPRESSION OF PEROXISOMAL MEMBRANE-PROTEIN DEFECTS BY PEROXISOMAL ATP BINDING CASSETTE (ABC) PROTEINS
Authors: BRAITERMAN LT ZHENG SQ WATKINS PA GERAGHTY MT JOHNSON G MCGUINNESS MC MOSER AB SMITH KD
Citation: Lt. Braiterman et al., SUPPRESSION OF PEROXISOMAL MEMBRANE-PROTEIN DEFECTS BY PEROXISOMAL ATP BINDING CASSETTE (ABC) PROTEINS, Human molecular genetics, 7(2), 1998, pp. 239-247
DEVELOPMENTAL DELAY AND GROWTH FAILURE CAUSED BY A PEROXISOMAL DISORDER, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE (DHAP-AT) DEFICIENCY
Authors: ELIAS ER MOBASSALEH M HAJRA AK MOSER AB
Citation: Er. Elias et al., DEVELOPMENTAL DELAY AND GROWTH FAILURE CAUSED BY A PEROXISOMAL DISORDER, DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE (DHAP-AT) DEFICIENCY, American journal of medical genetics, 80(3), 1998, pp. 223-226
ADRENOLEUKODYSTROPHY - INCREASED PLASMA CONTENT OF SATURATED VERY LONG-CHAIN FATTY-ACIDS
Authors: MOSER HW MOSER AB FRAYER KK CHEN W SCHULMAN JD ONEILL BP KISHIMOTO Y
Citation: Hw. Moser et al., ADRENOLEUKODYSTROPHY - INCREASED PLASMA CONTENT OF SATURATED VERY LONG-CHAIN FATTY-ACIDS, Neurology, 51(2), 1998, pp. 68-76
DEFECTIVE MUSCARINIC CHOLINERGIC SIGNAL-TRANSDUCTION IN CELL-LINES OFPATIENTS WITH PEROXISOMAL DISEASES (PD)
Authors: PERICHON R CUNNINGHAM SC MOSER AB MOSER HW KELLY FJ ROTH GS
Citation: R. Perichon et al., DEFECTIVE MUSCARINIC CHOLINERGIC SIGNAL-TRANSDUCTION IN CELL-LINES OFPATIENTS WITH PEROXISOMAL DISEASES (PD), Journal of neurochemistry, 70, 1998, pp. 26-26
PEROXISOMAL DISEASE CELL-LINES WITH CELLULAR PLASMALOGEN DEFICIENCY HAVE IMPAIRED MUSCARINIC CHOLINERGIC SIGNAL-TRANSDUCTION ACTIVITY AND AMYLOID PRECURSOR PROTEIN SECRETION
Authors: PERICHON R MOSER AB WALLACE WC CUNNINGHAM SC ROTH GS MOSER HW
Citation: R. Perichon et al., PEROXISOMAL DISEASE CELL-LINES WITH CELLULAR PLASMALOGEN DEFICIENCY HAVE IMPAIRED MUSCARINIC CHOLINERGIC SIGNAL-TRANSDUCTION ACTIVITY AND AMYLOID PRECURSOR PROTEIN SECRETION, Biochemical and biophysical research communications (Print), 248(1), 1998, pp. 57-61
STUDIES OF THE X-LINKED ADRENOLEUKODYSTROPHY PROTEIN (ALDP) AND SUPPRESSION OF PEROXISOME BIOGENESIS MEMBRANE-PROTEIN DEFECTS
Authors: BRAITERMAN LT ZHENG S WATKINS PA GERAGHTY M JOHNSON G MCGUINNESS MC MOSER AB SMITH KD
Citation: Lt. Braiterman et al., STUDIES OF THE X-LINKED ADRENOLEUKODYSTROPHY PROTEIN (ALDP) AND SUPPRESSION OF PEROXISOME BIOGENESIS MEMBRANE-PROTEIN DEFECTS, Molecular biology of the cell, 8, 1997, pp. 670-670
DOCOSAHEXAENOIC ACID THERAPY IN PEROXISOME BIOGENESIS DISORDERS
Authors: RAYMOND GV MOSER AB MOSER HW
Citation: Gv. Raymond et al., DOCOSAHEXAENOIC ACID THERAPY IN PEROXISOME BIOGENESIS DISORDERS, Annals of neurology, 42(3), 1997, pp. 41-41
THE MISSENSE ALLELE (A218V) IN THE RHIZOMELIC CHONDRODYSPLASIA PUNCTATA GENE IS ASSOCIATED WITH A MILDER PHENOTYPE
Authors: MOSER AB WALTON DS BRAVERMAN N MOSER HW
Citation: Ab. Moser et al., THE MISSENSE ALLELE (A218V) IN THE RHIZOMELIC CHONDRODYSPLASIA PUNCTATA GENE IS ASSOCIATED WITH A MILDER PHENOTYPE, Annals of neurology, 42(3), 1997, pp. 57-57
A MOUSE MODEL FOR X-LINKED ADRENOLEUKODYSTROPHY
Authors: LU JF LAWLER AM WATKINS PA POWERS JM MOSER AB MOSER HW SMITH KD
Citation: Jf. Lu et al., A MOUSE MODEL FOR X-LINKED ADRENOLEUKODYSTROPHY, Proceedings of the National Academy of Sciences of the United Statesof America, 94(17), 1997, pp. 9366-9371
CHARACTERIZATION OF AN X-LINKED ADRENOLEUKODYSTROPHY MOUSE MODEL
Authors: LU JF LAWLER AM WATKINS PA POWERS JM KEMP B MORAN TH MOSER AB MOSER HW SMITH KD
Citation: Jf. Lu et al., CHARACTERIZATION OF AN X-LINKED ADRENOLEUKODYSTROPHY MOUSE MODEL, American journal of human genetics, 61(4), 1997, pp. 285-285
STUDIES OF THE X-LINKED ADRENOLEUKODYSTROPHY PROTEIN (ALDP) AND SUPPRESSION OF PEROXISOME BIOGENESIS MEMBRANE-PROTEIN DEFECTS
Authors: BRAITERMAN LT ZHENG S WATKINS PA GERAGHTY M JOHNSON G MCGUINNESS MC MOSER AB SMITH KD
Citation: Lt. Braiterman et al., STUDIES OF THE X-LINKED ADRENOLEUKODYSTROPHY PROTEIN (ALDP) AND SUPPRESSION OF PEROXISOME BIOGENESIS MEMBRANE-PROTEIN DEFECTS, American journal of human genetics, 61(4), 1997, pp. 1447-1447
ABNORMALITIES IN POLYUNSATURATED FATTY-ACIDS IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
Authors: SOTO EG THEDA C MOSER AB MOSER HW RAYMOND GV
Citation: Eg. Soto et al., ABNORMALITIES IN POLYUNSATURATED FATTY-ACIDS IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1459-1459
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - AN ATYPICAL PRESENTATION
Authors: RAYMOND GV SOTO EG THEDA C MOSER AB MOSER HW
Citation: Gv. Raymond et al., PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - AN ATYPICAL PRESENTATION, American journal of human genetics, 61(4), 1997, pp. 1512-1512
NEURONAL MIGRATION ABNORMALITY IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFECT
Authors: KAUFMANN WE THEDA C NAIDU S WATKINS PA MOSER AB MOSER HW
Citation: We. Kaufmann et al., NEURONAL MIGRATION ABNORMALITY IN PEROXISOMAL BIFUNCTIONAL ENZYME DEFECT, Annals of neurology, 39(2), 1996, pp. 268-271
VERY LONG-CHAIN FATTY-ACIDS IN DIAGNOSIS, PATHOGENESIS, AND THERAPY OF PEROXISOMAL DISORDERS
Authors: MOSER HW MOSER AB
Citation: Hw. Moser et Ab. Moser, VERY LONG-CHAIN FATTY-ACIDS IN DIAGNOSIS, PATHOGENESIS, AND THERAPY OF PEROXISOMAL DISORDERS, Lipids, 31, 1996, pp. 141-144
SULFATIDE AND SPHINGOMYELIN LOADING OF LIVING CELLS AS TOOLS FOR THE STUDY OF CERAMIDE TURNOVER BY LYSOSOMAL CERAMIDASE - IMPLICATIONS FOR THE DIAGNOSIS OF FARBER-DISEASE
Authors: LEVADE T TEMPESTA MC MOSER HW FENSOM AH HARZER K MOSER AB SALVAYRE R
Citation: T. Levade et al., SULFATIDE AND SPHINGOMYELIN LOADING OF LIVING CELLS AS TOOLS FOR THE STUDY OF CERAMIDE TURNOVER BY LYSOSOMAL CERAMIDASE - IMPLICATIONS FOR THE DIAGNOSIS OF FARBER-DISEASE, Biochemical and molecular medicine, 54(2), 1995, pp. 117-125
DISTINCTION BETWEEN PEROXISOMAL BIFUNCTIONAL ENZYME AND ACYL-COA OXIDASE DEFICIENCIES
Authors: WATKINS PA MCGUINNESS MC RAYMOND GV HICKS BA SISK JM MOSER AB MOSER HW
Citation: Pa. Watkins et al., DISTINCTION BETWEEN PEROXISOMAL BIFUNCTIONAL ENZYME AND ACYL-COA OXIDASE DEFICIENCIES, Annals of neurology, 38(3), 1995, pp. 472-477
ADRENOLEUKODYSTROPHY IMMUNOLOGICAL CHARACTERIZATION OF ALDP
Authors: WATKINS PA BRAITERMAN LT SMITH MA GOULD SJ MOSER AB MOSER HW SMITH KD
Citation: Pa. Watkins et al., ADRENOLEUKODYSTROPHY IMMUNOLOGICAL CHARACTERIZATION OF ALDP, Pediatric research, 37(4), 1995, pp. 155-155
NEURODEGENERATIVE COURSE IN CERAMIDASE DEFICIENCY (FARBER-DISEASE) CORRELATES WITH THE RESIDUAL LYSOSOMAL CERAMIDE TURNOVER IN CULTURED LIVING PATIENT CELLS
Authors: LEVADE T MOSER HW FENSOM AH HARZER K MOSER AB SALVAYRE R
Citation: T. Levade et al., NEURODEGENERATIVE COURSE IN CERAMIDASE DEFICIENCY (FARBER-DISEASE) CORRELATES WITH THE RESIDUAL LYSOSOMAL CERAMIDE TURNOVER IN CULTURED LIVING PATIENT CELLS, Journal of the neurological sciences, 134(1-2), 1995, pp. 108-114
PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS
Authors: MOSER AB RASMUSSEN M NAIDU S WATKINS PA MCGUINNESS M HAJRA AK CHEN G RAYMOND G LIU A GORDON D GARNAAS K WALTON DS SKJELDAL OH GUGGENHEIM MA JACKSON LG ELIAS ER MOSER HW
Citation: Ab. Moser et al., PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS, The Journal of pediatrics, 127(1), 1995, pp. 13-22
IDENTIFICATION OF 3 DISTINCT PEROXISOMAL PROTEIN IMPORT DEFECTS IN PATIENTS WITH PEROXISOME BIOGENESIS DISORDERS
Authors: SLAWECKI ML DODT G STEINBERG S MOSER AB MOSER HW GOULD SJ
Citation: Ml. Slawecki et al., IDENTIFICATION OF 3 DISTINCT PEROXISOMAL PROTEIN IMPORT DEFECTS IN PATIENTS WITH PEROXISOME BIOGENESIS DISORDERS, Journal of Cell Science, 108, 1995, pp. 1817-1829
FUNCTIONAL-STUDIES OF THE X-ADRENOLEUKODYSTROPHY PROTEIN (ALDP)
Authors: BRAITERMAN LT ZHENG S WATKINS PA MOSER AB MOSER HW SMITH KD
Citation: Lt. Braiterman et al., FUNCTIONAL-STUDIES OF THE X-ADRENOLEUKODYSTROPHY PROTEIN (ALDP), American journal of human genetics, 57(4), 1995, pp. 1008-1008
ALTERED EXPRESSION OF ALDP IN X-LINKED ADRENOLEUKODYSTROPHY
Authors: WATKINS PA GOULD SJ SMITH MA BRAITERMAN LT WEI HM KOK F MOSER AB MOSER HW SMITH KD
Citation: Pa. Watkins et al., ALTERED EXPRESSION OF ALDP IN X-LINKED ADRENOLEUKODYSTROPHY, American journal of human genetics, 57(2), 1995, pp. 292-301
BIOCHEMICAL AND CLINICAL DISTINCTION BETWEEN PEROXISOMAL BIFUNCTIONALENZYME DEFICIENCY AND ACYL-COA OXIDASE DEFICIENCY
Authors: WATKINS PA MCGUINNESS MC RAYMOND GV RASMUSSEN M MOSER AB MOSER HW
Citation: Pa. Watkins et al., BIOCHEMICAL AND CLINICAL DISTINCTION BETWEEN PEROXISOMAL BIFUNCTIONALENZYME DEFICIENCY AND ACYL-COA OXIDASE DEFICIENCY, Annals of neurology, 36(3), 1994, pp. 492-492
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