Authors:
CARSTEA ED
MORRIS JA
COLEMAN KG
LOFTUS SK
ZHANG D
CUMMINGS C
GU J
ROSENFELD MA
PAVAN WJ
KRIZMAN DB
NAGLE J
POLYMEROPOULOS MH
STURLEY SL
IOANNOU YA
HIGGINS ME
COMLY M
COONEY A
BROWN A
KANESKI CR
BLANCHETTEMACKIE EJ
DWYER NK
NEUFELD EB
CHANG TY
LISCUM L
STRAUSS JF
OHNO K
ZEIGLER M
CARMI R
SOKOL J
MARKIE D
ONEILL RR
VANDIGGELEN OP
ELLEDER M
PATTERSON MC
BRADY RO
VANIER MT
PENTCHEV PG
TAGLE DA
Citation: Ed. Carstea et al., NIEMANN-PICK-C1-DISEASE GENE - HOMOLOGY TO MEDIATORS OF CHOLESTEROL HOMEOSTASIS, Science, 277(5323), 1997, pp. 228-231
Authors:
LOFTUS SK
MORRIS JA
CARSTEA ED
GU JZ
CUMMINGS C
BROWN A
ELLISON J
OHNO K
ROSENFELD MA
TAGLE DA
PENTCHEV PG
PAVAN WJ
Citation: Sk. Loftus et al., MURINE MODEL OF NIEMANN-PICK-C-DISEASE - MUTATION IN A CHOLESTEROL HOMEOSTASIS GENE, Science, 277(5323), 1997, pp. 232-235
Authors:
GU JZ
CARSTEA ED
CUMMINGS C
MORRIS JA
LOFTUS SK
ZHANG D
COLEMAN KG
COONEY AM
COMLY ME
FANDINO L
ROFF C
TAGLE DA
PAVAN WJ
PENTCHEV PG
ROSENFELD MA
Citation: Jz. Gu et al., SUBSTANTIAL NARROWING OF THE NIEMANN-PICK-C CANDIDATE INTERVAL BY YEAST ARTIFICIAL CHROMOSOME COMPLEMENTATION, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7378-7383
Authors:
SHAMBUREK RD
PENTCHEV PG
ZECH LA
BLANCHETTEMACKIE J
CARSTEA ED
VANDENBROEK JM
COOPER PS
NEUFELD EB
PHAIR RD
BREWER HB
BRADY RO
SCHWARTZ CC
Citation: Rd. Shamburek et al., INTRACELLULAR TRAFFICKING OF THE FREE-CHOLESTEROL DERIVED FROM LDL CHOLESTERYL ESTER IS DEFECTIVE IN-VIVO IN NIEMANN-PICK-C-DISEASE - INSIGHTS ON NORMAL METABOLISM OF HDL AND LDL GAINED FROM THE NP-C MUTATION, Journal of lipid research, 38(12), 1997, pp. 2422-2435
Authors:
STEPHAN DA
GU JZ
MALECHEK L
BITTNER M
JIANG Y
CARSTEA ED
MORRIS JA
TAGLE DA
MELTZER PS
ROSENFELD MA
TRENT JM
Citation: Da. Stephan et al., APPLICATION OF DNA MICROARRAY TECHNOLOGY TO IDENTIFY LOSS-OF-FUNCTIONDISEASE GENES - NIEMANN-PICK TYPE-C (NPC) DISEASE AS A MODEL SYSTEM, American journal of human genetics, 61(4), 1997, pp. 188-188
Authors:
TAGLE DA
BROWN K
CARSTEA ED
MORRIS JA
COLEMAN KG
LOFTUS SK
ZHANG D
CUMMINGS C
GU J
MOSBROOK D
ROSENFELD MA
PAVAN WJ
PENTCHEV PG
Citation: Da. Tagle et al., IDENTIFICATION AND CHARACTERIZATION OF THE NIEMANN-PICK TYPE-C GENE, American journal of human genetics, 61(4), 1997, pp. 283-283
Authors:
LOFTUS SK
MORRIS JA
CARSTEA ED
GU JZ
CUMMINGS C
BROWN A
ELLISON J
OHNO K
ROSENFELD MA
PENTCHEV PG
TAGLE DA
PAVAN WJ
Citation: Sk. Loftus et al., NIEMANN-PICK-C, A MURINE MODEL - MUTATIONS IN NPC1 RESULT IN ABNORMALCHOLESTEROL HOMEOSTASIS AND NEURODEGENERATION, American journal of human genetics, 61(4), 1997, pp. 1496-1496
Authors:
VANIER MT
DUTHEL S
RODRIGUEZLAFRASSE C
PENTCHEV P
CARSTEA ED
Citation: Mt. Vanier et al., GENETIC-HETEROGENEITY IN NIEMANN-PICK-C-DISEASE - A STUDY USING SOMATIC-CELL HYBRIDIZATION AND LINKAGE ANALYSIS, American journal of human genetics, 58(1), 1996, pp. 118-125
Authors:
AUER IA
SCHMIDT ML
LEE VMY
CURRY B
SUZUKI K
SHIN RW
PENTCHEV PG
CARSTEA ED
TROJANOWSKI JQ
Citation: Ia. Auer et al., PAIRED-HELICAL-FILAMENT-TAU (PHFTAU) IN NIEMANN-PICK TYPE-C DISEASE IS SIMILAR TO PHFTAU IN ALZHEIMERS-DISEASE, Acta Neuropathologica, 90(6), 1995, pp. 547-551
Authors:
PENTCHEV PG
BRADY RO
BLANCHETTEMACKIE EJ
VANIER MT
CARSTEA ED
PARKER CC
GOLDIN E
ROFF CF
Citation: Pg. Pentchev et al., THE NIEMANN-PICK C-LESION AND ITS RELATIONSHIP TO THE INTRACELLULAR-DISTRIBUTION AND UTILIZATION OF LDL CHOLESTEROL, Biochimica et biophysica acta. Molecular basis of disease, 1225(3), 1994, pp. 235-243
Authors:
CARSTEA ED
MILLER SPF
CHRISTAKIS H
ONEILL RR
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