Results: 1-25 | 26-50 | 51-75 | 76-82
Results: 1-25/82
A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS
Authors: VANSLEGTENHORST MA BASSI MT BORSANI G WAPENAAR MC FERRERO GB DECONCILIIS L RUGARLI EI GRILLO A FRANCO B ZOGHBI HY BALLABIO A
Citation: Ma. Vanslegtenhorst et al., A GENE FROM THE XP22.3 REGION SHARES HOMOLOGY WITH VOLTAGE-GATED CHLORIDE CHANNELS, Human molecular genetics, 3(4), 1994, pp. 547-552
A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
Authors: BALLABIO A SCHAEFER L FERRERO GB GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M NELSON D ZOGHBI HY
Citation: A. Ballabio et al., A HIGH-RESOLUTION 30-MB DELETION MAP OF THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 171-171
A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME
Authors: FERRERO GB SCHAEFER L GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M CHINAULT AC NELSON D ZOGHBI HY BALLABIO A
Citation: Gb. Ferrero et al., A HIGH-RESOLUTION 30-MEGABASE DELETION MAP OF THE DISTAL SHORT ARM OFTHE HUMAN X-CHROMOSOME, American journal of human genetics, 53(3), 1993, pp. 59-59
A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22
Authors: SCHAEFER L FERRERO GB GRILLO A BASSI MT ROTH EJ WAPENAAR MC VANOMMEN GJB MOHANDAS TK ROCCHI M ZOGHBI HY BALLABIO A
Citation: L. Schaefer et al., A HIGH-RESOLUTION DELETION MAP OF HUMAN CHROMOSOME-XP22, Nature genetics, 4(3), 1993, pp. 272-279
ANALYSIS OF THE CAG REPEAT AND GENE-PRODUCT IN SPINOCEREBELLAR ATAXIATYPE-1
Authors: ZOGHBI HY
Citation: Hy. Zoghbi, ANALYSIS OF THE CAG REPEAT AND GENE-PRODUCT IN SPINOCEREBELLAR ATAXIATYPE-1, Proceedings of the Association of American Physicians, 107(2), 1995, pp. 231-236
ANALYSIS OF THE GENOMIC STRUCTURE OF THE HUMAN GLYCINE RECEPTOR ALPHA-2 SUBUNIT GENE AND EXCLUSION OF THIS GENE AS A CANDIDATE FOR RETT-SYNDROME
Authors: CUMMINGS CJ DAHLE EJR ZOGHBI HY
Citation: Cj. Cummings et al., ANALYSIS OF THE GENOMIC STRUCTURE OF THE HUMAN GLYCINE RECEPTOR ALPHA-2 SUBUNIT GENE AND EXCLUSION OF THIS GENE AS A CANDIDATE FOR RETT-SYNDROME, American journal of medical genetics, 78(2), 1998, pp. 176-178
ANALYSIS OF THE TRINUCLEOTIDE CAG REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-1 SUGGESTS THAT CONVERSION FROM AN INTERRUPTED TO A HOMOGENEOUS REPEAT LEADS TO INSTABILITY
Authors: CHUNG MY RANUM LPW DUVICK LA GOLDFARB L ZOGHBI HY ORR HT
Citation: My. Chung et al., ANALYSIS OF THE TRINUCLEOTIDE CAG REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-1 SUGGESTS THAT CONVERSION FROM AN INTERRUPTED TO A HOMOGENEOUS REPEAT LEADS TO INSTABILITY, American journal of human genetics, 53(3), 1993, pp. 84-84
AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22
Authors: WAPENAAR MC SCHIAFFINO MV BASSI MT SCHAEFER L CHINAULT AC ZOGHBI HY BALLABIO A
Citation: Mc. Wapenaar et al., AN EFFICIENT YAC-BASED BINNING STRATEGY FOR THE CONSTRUCTION OF MB-SCALE COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS SPANNING THE OA1 AND MLS GENES IN XP22, Cytogenetics and cell genetics, 67(4), 1994, pp. 330-330
A NEW RETT-SYNDROME FAMILY CONSISTENT WITH X-LINKED INHERITANCE EXPANDS THE X-CHROMOSOME EXCLUSION MAP
Authors: SCHANEN NC DAHLE EJR CAPOZZOLI F HOLM VA ZOGHBI HY FRANCKE U
Citation: Nc. Schanen et al., A NEW RETT-SYNDROME FAMILY CONSISTENT WITH X-LINKED INHERITANCE EXPANDS THE X-CHROMOSOME EXCLUSION MAP, American journal of human genetics, 61(3), 1997, pp. 634-641
AN INTEGRATED 40-MB PHYSICAL MAP OF THE DISTAL SHORT ARM OF THE HUMANX-CHROMOSOME
Authors: FERRERO GB FRANCO B ROTH EJ FIRULLI BA GRILLO A BORSANI G CHINAULT AC NELSON DL ZOGHBI HY BALLABIO A
Citation: Gb. Ferrero et al., AN INTEGRATED 40-MB PHYSICAL MAP OF THE DISTAL SHORT ARM OF THE HUMANX-CHROMOSOME, Cytogenetics and cell genetics, 67(4), 1994, pp. 330-331
AN INTEGRATED PHYSICAL AND GENETIC-MAP OF A 35 MB REGION ON CHROMOSOME XP22.3-XP21.3
Authors: FERRERO GB FRANCO B ROTH EJ FIRULLI BA BORSANI G DELMASMATA J WEISSENBACH J HALLEY G SCHLESSINGER D CHINAULT AC ZOGHBI HY NELSON DL BALLABIO A
Citation: Gb. Ferrero et al., AN INTEGRATED PHYSICAL AND GENETIC-MAP OF A 35 MB REGION ON CHROMOSOME XP22.3-XP21.3, Human molecular genetics, 4(10), 1995, pp. 1821-1827
ASSIGNMENT OF AN INTRON-CONTAINING HUMAN HEAT-SHOCK PROTEIN GENE (HSP90-BETA, HSPCB) TO CHROMOSOME-6 NEAR TCTE1 (6P21) AND 2 INTRONLESS PSEUDOGENES TO CHROMOSOME-4 AND CHROMOSOME-15 BY POLYMERASE CHAIN-REACTION AMPLIFICATION FROM A PANEL OF HYBRID CELL-LINES
Authors: DURKIN AS MAGLOTT DR VAMVAKOPOULOS NC ZOGHBI HY NIERMAN WC
Citation: As. Durkin et al., ASSIGNMENT OF AN INTRON-CONTAINING HUMAN HEAT-SHOCK PROTEIN GENE (HSP90-BETA, HSPCB) TO CHROMOSOME-6 NEAR TCTE1 (6P21) AND 2 INTRONLESS PSEUDOGENES TO CHROMOSOME-4 AND CHROMOSOME-15 BY POLYMERASE CHAIN-REACTION AMPLIFICATION FROM A PANEL OF HYBRID CELL-LINES, Genomics, 18(2), 1993, pp. 452-454
ATAXIN-1 NUCLEAR-LOCALIZATION AND AGGREGATION - ROLE IN POLYGLUTAMINE-INDUCED DISEASE IN SCA1 TRANSGENIC MICE
Authors: KLEMENT IA SKINNER PJ KAYTOR MD YI H HERSCH SM CLARK HB ZOGHBI HY ORR HT
Citation: Ia. Klement et al., ATAXIN-1 NUCLEAR-LOCALIZATION AND AGGREGATION - ROLE IN POLYGLUTAMINE-INDUCED DISEASE IN SCA1 TRANSGENIC MICE, Cell (Cambridge), 95(1), 1998, pp. 41-53
ATAXIN-1 WITH AN EXPANDED GLUTAMINE TRACT ALTERS NUCLEAR MATRIX-ASSOCIATED STRUCTURES
Authors: SKINNER PJ KOSHY BT CUMMINGS CJ KLEMENT IA HELIN K SERVADIO A ZOGHBI HY ORR HT
Citation: Pj. Skinner et al., ATAXIN-1 WITH AN EXPANDED GLUTAMINE TRACT ALTERS NUCLEAR MATRIX-ASSOCIATED STRUCTURES, Nature, 389(6654), 1997, pp. 971-974
ATAXIN-1 WITH AN EXPANDED GLUTAMINE TRACT ALTERS NUCLEAR MATRIX-ASSOCIATED STRUCTURES (VOL 389, PG 971, 1997)
Authors: SKINNER PJ KOSHY BT CUMMINGS CJ KLEMENT IA HELIN K SERVADIO A ZOGHBI HY ORR HT
Citation: Pj. Skinner et al., ATAXIN-1 WITH AN EXPANDED GLUTAMINE TRACT ALTERS NUCLEAR MATRIX-ASSOCIATED STRUCTURES (VOL 389, PG 971, 1997), Nature, 391(6664), 1998, pp. 307-307
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH POLYGLUTAMINE EXPANSION IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL
Authors: LEE CC ZHUCHENKO O BAILEY J BONNEN P ASHIZAWA T STOCKTON DW AMOS C DOBYNS WB SUBRAMONY SH ZOGHBI HY
Citation: Cc. Lee et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH POLYGLUTAMINE EXPANSION IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL, American journal of human genetics, 61(4), 1997, pp. 1829-1829
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH SMALL POLYGLUTAMINE EXPANSIONS IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL
Authors: ZHUCHENKO O BAILEY J BONNEN P ASHIZAWA T STOCKTON DW AMOS C DOBYNS WB SUBRAMONY SH ZOGHBI HY LEE CC
Citation: O. Zhuchenko et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH SMALL POLYGLUTAMINE EXPANSIONS IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL, Nature genetics, 15(1), 1997, pp. 62-69
A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22
Authors: WAPENAAR MC SCHIAFFINO MV BASSI MT SCHAEFER L CHINAULT AC ZOGHBI HY BALLABIO A
Citation: Mc. Wapenaar et al., A YAC-BASED BINNING STRATEGY FACILITATING THE RAPID ASSEMBLY OF COSMID CONTIGS - 1.6-MB OF OVERLAPPING COSMIDS IN XP22, Human molecular genetics, 3(7), 1994, pp. 1155-1161
BEHAVIORAL AND PATHOLOGICAL CHARACTERIZATION OF SCA1 TRANSGENIC MICE
Authors: BURRIGHT EN WILCOX C DUVICK LA ZOGHBI HY CLARK HB ORR HT
Citation: En. Burright et al., BEHAVIORAL AND PATHOLOGICAL CHARACTERIZATION OF SCA1 TRANSGENIC MICE, Behavior genetics, 27(3), 1997, pp. 259-260
CAG REPEATS IN SCA6 - ANTICIPATING NEW CLUES
Authors: ZOGHBI HY
Citation: Hy. Zoghbi, CAG REPEATS IN SCA6 - ANTICIPATING NEW CLUES, Neurology, 49(5), 1997, pp. 1196-1199
CHAPERONE SUPPRESSION OF AGGREGATION AND ALTERED SUBCELLULAR PROTEASOME LOCALIZATION IMPLY PROTEIN MISFOLDING IN SCA1
Authors: CUMMINGS CJ MANCINI MA ANTALFFY B DEFRANCO DB ORR HT ZOGHBI HY
Citation: Cj. Cummings et al., CHAPERONE SUPPRESSION OF AGGREGATION AND ALTERED SUBCELLULAR PROTEASOME LOCALIZATION IMPLY PROTEIN MISFOLDING IN SCA1, Nature genetics, 19(2), 1998, pp. 148-154
CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)
Authors: SCHAEFER L WAPENAAR MC BASSI MT FERRERO GB GRILLO A ROTH RJ BALLABIO A ZOGHBI HY
Citation: L. Schaefer et al., CHARACTERIZATION AND CLONING OF THE CRITICAL REGION FOR THE MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS), Journal of cellular biochemistry, 1994, pp. 208-208
CHARACTERIZATION AND PHYSICAL MAPPING IN HUMAN AND MOUSE OF A NOVEL RING FINGER GENE IN XP22
Authors: VANDENVEYVER IB CORMIER TA JURECIC V BALDINI A ZOGHBI HY
Citation: Ib. Vandenveyver et al., CHARACTERIZATION AND PHYSICAL MAPPING IN HUMAN AND MOUSE OF A NOVEL RING FINGER GENE IN XP22, Genomics (San Diego, Calif.), 51(2), 1998, pp. 251-261
CHARACTERIZATION OF ATAXIN-1 SELF-INTERACTIONS AND THE IDENTIFICATIONOF GENES ENCODING PUTATIVE INTERACTING PROTEINS
Authors: DAVIDSON JD SERVADIO A DUVICK LA ZOGHBI HY ORR HT BURRIGHT EN
Citation: Jd. Davidson et al., CHARACTERIZATION OF ATAXIN-1 SELF-INTERACTIONS AND THE IDENTIFICATIONOF GENES ENCODING PUTATIVE INTERACTING PROTEINS, American journal of human genetics, 57(4), 1995, pp. 197-197
CHARACTERIZATION OF THE CHROMOSOME-6 GENE CAUSING SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) - ANALYSIS OF CAG REPEAT VARIATION AND STABILITY
Authors: RANUM LPW CHUNG MY DUVICK LA SCHUT LJ GOMEZ C ORR HT SUBRAMONY SH GOLDFARB L BRYER A RAMESAR R BANFI S KWIATKOWSKI TJ SERVADIO A MCCALL AE ZOGHBI HY
Citation: Lpw. Ranum et al., CHARACTERIZATION OF THE CHROMOSOME-6 GENE CAUSING SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) - ANALYSIS OF CAG REPEAT VARIATION AND STABILITY, Neurology, 44(4), 1994, pp. 10000360-10000361
Risultati: 1-25 | 26-50 | 51-75 | 76-82