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Results: 1-12 |
Results: 12
2 NOVEL PRESENILIN-1 MUTATIONS (SER169LEU AND PRO436GLN) ASSOCIATED WITH VERY EARLY-ONSET ALZHEIMERS-DISEASE
Authors: TADDEI K KWOK JBJ KRIL JJ HALLIDAY GM CREASEY H HALLUPP M FISHER C BROOKS WS CHUNG C ANDREWS C MASTERS CL SCHOFIELD PR MARTINS RH
Citation: K. Taddei et al., 2 NOVEL PRESENILIN-1 MUTATIONS (SER169LEU AND PRO436GLN) ASSOCIATED WITH VERY EARLY-ONSET ALZHEIMERS-DISEASE, NeuroReport, 9(14), 1998, pp. 3335-3339
ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17
Authors: HUTTON M LENDON CL RIZZU P BAKER M FROELICH S HOULDEN H PICKERINGBROWN S CHAKRAVERTY S ISAACS A GROVER A HACKETT J ADAMSON J LINCOLN S DICKSON D DAVIES P PETERSEN RC STEVENS M DEGRAAFF E WAUTERS E VANBAREN J HILLEBRAND M JOOSSE M KWON JM NOWOTNY P CHE LK NORTON J MORRIS JC REED LA TROJANOWSKI J BASUN H LANNFELT L NEYSTAT M FAHN S DARK F TANNENBERG T DODD PR HAYWARD N KWOK JBJ SCHOFIELD PR ANDREADIS A SNOWDEN J CRAUFURD D NEARY D OWEN F OOSTRA BA HARDY J GOATE A VANSWIETEN J MANN D LYNCH T HEUTINK P
Citation: M. Hutton et al., ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17, Nature, 393(6686), 1998, pp. 702-705
2 NOVEL (M233T AND R278T) PRESENILIN-1 MUTATIONS IN EARLY-ONSET ALZHEIMERS-DISEASE PEDIGREES AND PRELIMINARY EVIDENCE FOR ASSOCIATION OF PRESENILIN-1 MUTATIONS WITH A NOVEL PHENOTYPE
Authors: KWOK JBJ TADDEI K HALLUPP M FISHER C BROOKS WS BROE GA HARDY J FULHAM MJ NICHOLSON GA STELL R HYSLOP PHS FRASER PE KAKULAS B CLARNETTE R RELKIN N GANDY SE SCHOFIELD PR MARTINS RN
Citation: Jbj. Kwok et al., 2 NOVEL (M233T AND R278T) PRESENILIN-1 MUTATIONS IN EARLY-ONSET ALZHEIMERS-DISEASE PEDIGREES AND PRELIMINARY EVIDENCE FOR ASSOCIATION OF PRESENILIN-1 MUTATIONS WITH A NOVEL PHENOTYPE, NeuroReport, 8(6), 1997, pp. 1537-1542
LOCALIZATION OF FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM IN AN AUSTRALIAN KINDRED TO CHROMOSOME 17Q21-22
Authors: BAKER M KWOK JBJ KUCERA S CROOK R FARRER M HOULDEN H ISAACS A LINCOLN S ONSTEAD L HARDY J WITTENBERG L DODD P WEBB S HAYWARD N TANNENBERG T ANDREADIS A HALLUPP M SCHOFIELD P DARK F HUTTON M
Citation: M. Baker et al., LOCALIZATION OF FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM IN AN AUSTRALIAN KINDRED TO CHROMOSOME 17Q21-22, Annals of neurology, 42(5), 1997, pp. 794-798
IDENTIFICATION OF A NOVEL GENETIC-LINKAGE WITH BIPOLAR AFFECTIVE-DISORDER
Authors: SCHOFIELD PR ADAMS LJ KWOK JBJ SALMON JA FIELDER SL ROSSO A REID A DONALD JA MITCHELL PB
Citation: Pr. Schofield et al., IDENTIFICATION OF A NOVEL GENETIC-LINKAGE WITH BIPOLAR AFFECTIVE-DISORDER, American journal of medical genetics, 74(6), 1997, pp. 587-587
A MUTATION IN CODON-717 OF THE AMYLOID PRECURSOR PROTEIN GENE IN AN AUSTRALIAN FAMILY WITH ALZHEIMERS-DISEASE
Authors: BROOKS WS MARTINS RN DEVOECHT J NICHOLSON GA SCHOFIELD PR KWOK JBJ FISHER C YEUNG LU VANBROECKHOVEN C
Citation: Ws. Brooks et al., A MUTATION IN CODON-717 OF THE AMYLOID PRECURSOR PROTEIN GENE IN AN AUSTRALIAN FAMILY WITH ALZHEIMERS-DISEASE, Neuroscience letters, 199(3), 1995, pp. 183-186
MUTATIONS OF THE RET PROTOONCOGENE IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 SYNDROMES AND HIRSCHSPRUNG DISEASE
Authors: ENG C MULLIGAN LM LYONNET S EDERY P SMITH DP KWOK JBJ GARDNER E HEALEY CS PONDER MA MUNNICH A PONDER BAJ
Citation: C. Eng et al., MUTATIONS OF THE RET PROTOONCOGENE IN THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 SYNDROMES AND HIRSCHSPRUNG DISEASE, Journal of Medical Genetics, 32(2), 1995, pp. 135-135
SPECIFIC MUTATIONS OF THE RET PROTOONCOGENE ARE RELATED TO DISEASE PHENOTYPE IN MEN 2A AND FMTC
Authors: MULLIGAN LM ENG C HEALEY CS CLAYTON D KWOK JBJ GARDNER E PONDER MA FRILLING A JACKSON CE LEHNERT H NEUMANN HPH THIBODEAU SN PONDER BAJ
Citation: Lm. Mulligan et al., SPECIFIC MUTATIONS OF THE RET PROTOONCOGENE ARE RELATED TO DISEASE PHENOTYPE IN MEN 2A AND FMTC, Nature genetics, 6(1), 1994, pp. 70-74
HAPLOTYPE ANALYSIS OF MEN-2 MUTATIONS
Authors: GARDNER E MULLIGAN LM ENG C HEALEY CS KWOK JBJ PONDER MA PONDER BAJ
Citation: E. Gardner et al., HAPLOTYPE ANALYSIS OF MEN-2 MUTATIONS, Human molecular genetics, 3(10), 1994, pp. 1771-1774
STRUCTURAL-ANALYSIS OF THE HUMAN RET PROTOONCOGENE USING EXON TRAPPING
Authors: KWOK JBJ GARDNER E WARNER JP PONDER BAJ MULLIGAN LM
Citation: Jbj. Kwok et al., STRUCTURAL-ANALYSIS OF THE HUMAN RET PROTOONCOGENE USING EXON TRAPPING, Oncogene, 8(9), 1993, pp. 2575-2582
GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A
Authors: MULLIGAN LM KWOK JBJ HEALEY CS ELSDON MJ ENG C GARDNER E LOVE DR MOLE SE MOORE JK PAPI L PONDER MA TELENIUS H TUNNACLIFFE A PONDER BAJ
Citation: Lm. Mulligan et al., GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A, Nature, 363(6428), 1993, pp. 458-460
GERMLINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, (MEN 2A)
Authors: MULLIGAN LM KWOK JBJ HEALEY CS GARDNER E PONDER MA PONDER BAJ
Citation: Lm. Mulligan et al., GERMLINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, (MEN 2A), American journal of human genetics, 53(3), 1993, pp. 168-168
Risultati: 1-12 |