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Results: 1-19 |
Results: 19
MISSENSE MUTATIONS IN THE CHROMOSOME-14 FAMILIAL ALZHEIMERS-DISEASE PRESENILIN-1 GENE
Authors: POORKAJ P SHARMA V ANDERSON L NEMENS E ALONSO ME ORR H WHITE J HESTON L BIRD TD SCHELLENBERG GD
Citation: P. Poorkaj et al., MISSENSE MUTATIONS IN THE CHROMOSOME-14 FAMILIAL ALZHEIMERS-DISEASE PRESENILIN-1 GENE, Human mutation, 11(3), 1998, pp. 216-221
AN EXPRESSION MAP FROM HUMAN-CHROMOSOME 14Q24.3
Authors: SHARMA V POORKAJ P HISAMA F BONNYCASTLE L YU CE MASSA H TRASK B CLANCY KP PATTERSON D WEISSMAN SM SCHELLENBERG GD
Citation: V. Sharma et al., AN EXPRESSION MAP FROM HUMAN-CHROMOSOME 14Q24.3, Genomics, 47(2), 1998, pp. 314-318
TAU IS A CANDIDATE GENE FOR CHROMOSOME-17 FRONTOTEMPORAL DEMENTIA
Authors: POORKAJ P BIRD TD WIJSMAN E NEMENS E GARRUTO RM ANDERSON L ANDREADIS A WIEDERHOLT WC RASKIND M SCHELLENBERG GD
Citation: P. Poorkaj et al., TAU IS A CANDIDATE GENE FOR CHROMOSOME-17 FRONTOTEMPORAL DEMENTIA, Annals of neurology, 43(6), 1998, pp. 815-825
PATHOGENIC IMPLICATIONS OF MUTATIONS IN THE TAU GENE IN PALLIDO-PONTO-NIGRAL DEGENERATION AND RELATED NEURODEGENERATIVE DISORDERS LINKED TOCHROMOSOME-17
Authors: CLARK LN POORKAJ P WSZOLEK Z GESCHWIND DH NASREDDINE ZS MILLER B LI D PAYAMI H AWERT F MARKOPOULOU K ANDREADIS A DSOUZA I LEE VMY REED L TROJANOWSKI JQ ZHUKAREVA V BIRD T SCHELLENBERG G WILHELMSEN KC
Citation: Ln. Clark et al., PATHOGENIC IMPLICATIONS OF MUTATIONS IN THE TAU GENE IN PALLIDO-PONTO-NIGRAL DEGENERATION AND RELATED NEURODEGENERATIVE DISORDERS LINKED TOCHROMOSOME-17, Proceedings of the National Academy of Sciences of the United Statesof America, 95(22), 1998, pp. 13103-13107
CHROMOSOME-17 AND HEREDITARY DEMENTIA - LINKAGE STUDIES IN 3 NON-ALZHEIMER FAMILIES AND KINDREDS WITH LATE-ONSET FAD
Authors: BIRD TD WIJSMAN EM NOCHLIN D LEEHEY M SUMI SM PAYAMI H POORKAJ P NEMENS E RAFKIND M SCHELLENBERG GD
Citation: Td. Bird et al., CHROMOSOME-17 AND HEREDITARY DEMENTIA - LINKAGE STUDIES IN 3 NON-ALZHEIMER FAMILIES AND KINDREDS WITH LATE-ONSET FAD, Neurology, 48(4), 1997, pp. 949-954
SECRETED AMYLOID BETA-PROTEIN SIMILAR TO THAT IN THE SENILE PLAQUES OF ALZHEIMERS-DISEASE IS INCREASED IN-VIVO BY THE PRESENILIN-1 AND PRESENILIN-2 AND APP MUTATIONS LINKED TO FAMILIAL ALZHEIMERS-DISEASE
Authors: SCHEUNER D ECKMAN C JENSEN M SONG X CITRON M SUZUKI N BIRD TD HARDY J HUTTON M KUKULL W LARSON E LEVYLAHAD E VIITANEN M PESKIND E POORKAJ P SCHELLENBERG G TANZI R WASCO W LANNFELT L SELKOE D YOUNKIN S
Citation: D. Scheuner et al., SECRETED AMYLOID BETA-PROTEIN SIMILAR TO THAT IN THE SENILE PLAQUES OF ALZHEIMERS-DISEASE IS INCREASED IN-VIVO BY THE PRESENILIN-1 AND PRESENILIN-2 AND APP MUTATIONS LINKED TO FAMILIAL ALZHEIMERS-DISEASE, Nature medicine, 2(8), 1996, pp. 864-870
CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT
Authors: CRACKOWER MA SCHERER SW ROMMENS JM HUI CC POORKAJ P SODER S COBBEN JM HUDGINS L EVANS JP TSUI LC
Citation: Ma. Crackower et al., CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT, Human molecular genetics, 5(5), 1996, pp. 571-579
THE CLINICAL PHENOTYPE OF 2 MISSENSE MUTATIONS IN THE PRESENILIN-I GENE IN JAPANESE PATIENTS
Authors: IKEDA M SHARMA V SUMI M ROGAEVA EA POORKAJ P SHERRINGTON R NEE L TSUDA T ODA N WATANABE M AOKI M SHOJI M ABE K ITOYAMA Y HIRAI S SCHELLENBERG GD BIRD TD STGEORGEHYSLOP PH
Citation: M. Ikeda et al., THE CLINICAL PHENOTYPE OF 2 MISSENSE MUTATIONS IN THE PRESENILIN-I GENE IN JAPANESE PATIENTS, Annals of neurology, 40(6), 1996, pp. 912-917
WIDE-RANGE IN AGE-OF-ONSET FOR CHROMOSOME 1-RELATED FAMILIAL ALZHEIMERS-DISEASE
Authors: BIRD TD LEVYLAHAD E POORKAJ P SHARMA V NEMENS E LAHAD A LAMPE TH SCHELLENBERG GD
Citation: Td. Bird et al., WIDE-RANGE IN AGE-OF-ONSET FOR CHROMOSOME 1-RELATED FAMILIAL ALZHEIMERS-DISEASE, Annals of neurology, 40(6), 1996, pp. 932-936
AMYLOID-BETA PROTEIN (A-BETA) DEPOSITION IN CHROMOSOME 14-LINKED ALZHEIMERS-DISEASE - PREDOMINANCE OF A-BETA(42(43))
Authors: MANN DMA IWATSUBO T CAIRNS NJ LANTOS PL NOCHLIN D SUMI SM BIRD TD POORKAJ P HARDY J HUTTON M PRIHAR G CROOK R ROSSOR MN HALTIA M
Citation: Dma. Mann et al., AMYLOID-BETA PROTEIN (A-BETA) DEPOSITION IN CHROMOSOME 14-LINKED ALZHEIMERS-DISEASE - PREDOMINANCE OF A-BETA(42(43)), Annals of neurology, 40(2), 1996, pp. 149-156
NEURONAL EXPRESSION OF STM2 MESSENGER-RNA IN HUMAN BRAIN IS REDUCED IN ALZHEIMERS-DISEASE
Authors: MCMILLAN PJ LEVERENZ JB POORKAJ P SCHELLENBERG GD DORSA DM
Citation: Pj. Mcmillan et al., NEURONAL EXPRESSION OF STM2 MESSENGER-RNA IN HUMAN BRAIN IS REDUCED IN ALZHEIMERS-DISEASE, The Journal of histochemistry and cytochemistry, 44(11), 1996, pp. 1215-1222
ANTIBODIES TO PRESENILIN PROTEINS DETECT NEUROFIBRILLARY TANGLES IN ALZHEIMERS-DISEASE
Authors: MURPHY GM FORNO LS ELLIS WG NOCHLIN D LEVYLAHAD E POORKAJ P BIRD TD JIANG ZL CORDELL B
Citation: Gm. Murphy et al., ANTIBODIES TO PRESENILIN PROTEINS DETECT NEUROFIBRILLARY TANGLES IN ALZHEIMERS-DISEASE, The American journal of pathology, 149(6), 1996, pp. 1839-1846
THE CHROMOSOME-14 ALZHEIMERS-DISEASE LOCUS
Authors: SCHELLENBERG GD SHARMA V POORKAJ P HISAMA F WIJSMAN EM WEISSMAN SM BIRD TD
Citation: Gd. Schellenberg et al., THE CHROMOSOME-14 ALZHEIMERS-DISEASE LOCUS, Journal of cellular biochemistry, 1995, pp. 86-86
PHYSICAL MAPPING OF THE SPILT HAND SPLIT FOOT (SHSF) LOCUS ON CHROMOSOME-7 AND IMPLICATION IN THE SYNDROMIC ECTRODACTYLIES
Authors: EVANS JP SCHERER SW CRACKOWER M POORKAJ P MASSA H NUNES ME GESHURI D HUDGINS L TRASK B TSUI LC
Citation: Jp. Evans et al., PHYSICAL MAPPING OF THE SPILT HAND SPLIT FOOT (SHSF) LOCUS ON CHROMOSOME-7 AND IMPLICATION IN THE SYNDROMIC ECTRODACTYLIES, Cytogenetics and cell genetics, 71(1), 1995, pp. 29-29
ORGANELLAR CLUSTERS FORMED BY MITOCHONDRIAL-ROUGH ENDOPLASMIC-RETICULUM ASSOCIATIONS - AN ORDERED ARRANGEMENT OF MITOCHONDRIA IN HEPATOCYTES
Authors: CASCARANO J CHAMBERS PA SCHWARTZ E POORKAJ P GONDO RE
Citation: J. Cascarano et al., ORGANELLAR CLUSTERS FORMED BY MITOCHONDRIAL-ROUGH ENDOPLASMIC-RETICULUM ASSOCIATIONS - AN ORDERED ARRANGEMENT OF MITOCHONDRIA IN HEPATOCYTES, Hepatology, 22(3), 1995, pp. 837-846
CANDIDATE GENE FOR THE CHROMOSOME-1 FAMILIAL ALZHEIMERS-DISEASE LOCUS
Authors: LEVYLAHAD E WASCO W POORKAJ P ROMANO DM OSHIMA J PETTINGELL WH YU CE JONDRO PD SCHMIDT SD WANG K CROWLEY AC FU YH GUENETTE SY GALAS D NEMENS E WIJSMAN EM BIRD TD SCHELLENBERG GD TANZI RE
Citation: E. Levylahad et al., CANDIDATE GENE FOR THE CHROMOSOME-1 FAMILIAL ALZHEIMERS-DISEASE LOCUS, Science, 269(5226), 1995, pp. 973-977
PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY
Authors: SCHERER SW POORKAJ P MASSA H SODER S ALLEN T NUNES M GESHURI D WONG E BELLONI E LITTLE S ZHOU LM BECKER D KERE J IGNATIUS J NIIKAWA N FUKUSHIMA Y HASEGAWA T WEISSENBACH J BONCINELLI E TRASK B TSUI LC EVANS JP
Citation: Sw. Scherer et al., PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY, Human molecular genetics, 3(8), 1994, pp. 1345-1354
PROGRESS TOWARDS POSITIONAL CLONING OF A GENE FOR SPLIT HAND SPLIT FOOT MALFORMATION AND MAPPING OF THE 7Q21-]Q22 REGION OF HUMAN CHROMOSOME-7
Authors: EVANS JP SCHERER S POORKAJ P GESHURI D NUNEZ M TSUI LC
Citation: Jp. Evans et al., PROGRESS TOWARDS POSITIONAL CLONING OF A GENE FOR SPLIT HAND SPLIT FOOT MALFORMATION AND MAPPING OF THE 7Q21-]Q22 REGION OF HUMAN CHROMOSOME-7, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 70-70
FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1
Authors: SCHERER SW POORKAJ P ALLEN T KIM J GESHURI D NUNES M SODER S STEPHENS K PAGON RA PATTON MA BERG MA DONLON T RIVERA H PFEIFFER RA NARITOMI K HUGHES H GENUARDI M GURRIERI F NERI G LOVREIN E MAGENIS E TSUI LC EVANS JP
Citation: Sw. Scherer et al., FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1, American journal of human genetics, 55(1), 1994, pp. 12-20
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