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Results: 1-25 | 26-26
Results: 1-25/26
Cloning, characterization, and genomic structure of the mouse Ikbkap gene
Authors: Cuajungco, MP Leyne, M Mull, J Gill, SP Gusella, JF Slaugenhaupt, SA
Citation: Mp. Cuajungco et al., Cloning, characterization, and genomic structure of the mouse Ikbkap gene, DNA CELL B, 20(9), 2001, pp. 579-586
Quantitative neuropathological changes in presymptomatic Huntington's disease
Authors: Gomez-Tortosa, E MacDonald, ME Friend, JC Taylor, SAM Weiler, LJ Cupples, LA Srinidhi, J Gusella, JF Bird, ED Vonsattel, JP Myers, RH
Citation: E. Gomez-tortosa et al., Quantitative neuropathological changes in presymptomatic Huntington's disease, ANN NEUROL, 49(1), 2001, pp. 29-34
Genome-wide scan for Parkinson's disease: The GenePD study
Authors: DeStefano, AL Golbe, LI Mark, MH Lazzarini, AM Maher, NE Saint-Hilaire, M Feldman, RG Guttman, M Watts, RL Suchowersky, O Lafontaine, AL Labelle, N Lew, MF Waters, CH Growdon, JH Singer, C Currie, LJ Wooten, GF Vieregge, P Pramstaller, PP Klein, C Hubble, JP Stacy, M Montgomery, E MacDonald, ME Gusella, JF Myers, RH
Citation: Al. Destefano et al., Genome-wide scan for Parkinson's disease: The GenePD study, NEUROLOGY, 57(6), 2001, pp. 1124-1126
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
Authors: Slaugenhaupt, SA Blumenfeld, A Gill, SP Leyne, M Mull, J Cuajungco, MP Liebert, CB Chadwick, B Idelson, M Reznik, L Robbins, CM Makalowska, I Brownstein, MJ Krappmann, D Scheidereit, C Maayan, C Axelrod, FB Gusella, JF
Citation: Sa. Slaugenhaupt et al., Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia, AM J HU GEN, 68(3), 2001, pp. 598-605
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
Authors: Gusella, JF MacDonald, ME
Citation: Jf. Gusella et Me. Macdonald, Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease, NAT REV NEU, 1(2), 2000, pp. 109-115
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh(Q92) and Hdh(Q111) knock-in mice
Authors: Wheeler, VC White, JK Gutekunst, CA Vrbanac, V Weaver, M Li, XJ Li, SH Yi, H Vonsattel, JP Gusella, JF Hersch, S Auerbach, W Joyner, AL MacDonald, ME
Citation: Vc. Wheeler et al., Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh(Q92) and Hdh(Q111) knock-in mice, HUM MOL GEN, 9(4), 2000, pp. 503-513
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis
Authors: Passani, LA Bedford, MT Faber, PW McGinnis, KM Sharp, AH Gusella, JF Vonsattel, JP MacDonald, ME
Citation: La. Passani et al., Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis, HUM MOL GEN, 9(14), 2000, pp. 2175-2182
Cloning, mapping, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31
Authors: Chadwick, BP Leyne, M Gill, S Liebert, CB Mull, J Mezey, E Robbins, CM Pinkett, HW Makalowska, I Maayan, C Blumenfeld, A Axelrod, FB Brownstein, M Gusella, JF Slaugenhaupt, SA
Citation: Bp. Chadwick et al., Cloning, mapping, and expression of a novel brain-specific transcript in the Familial Dysautonomia candidate region on Chromosome 9q31, MAMM GENOME, 11(1), 2000, pp. 81-83
Advances in neurofibromatosis 2 (NF2): A workshop report
Authors: Lim, DJ Rubenstein, AE Evans, DG Jacks, T Seizinger, BG Baser, ME Beebe, D Brackmann, DE Chiocca, EA Fehon, RG Giovannini, M Glazer, R Gusella, JF Gutmann, DH Korf, B Lieberman, F Martuza, R McClatchey, AI Parry, DM Pulst, SM Ramesh, V Ramsey, WJ Ratner, N Rutkowski, JL Ruttledge, M Weinstein, DE
Citation: Dj. Lim et al., Advances in neurofibromatosis 2 (NF2): A workshop report, J NEUROGEN, 14(2), 2000, pp. 63-106
A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers
Authors: Castells, A Gusella, JF Ramesh, V Rustgi, AK
Citation: A. Castells et al., A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers, CANCER RES, 60(11), 2000, pp. 2836-2839
Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment
Authors: Persichetti, F Trettel, F Huang, CC Fraefel, C Timmers, HTM Gusella, JF MacDonald, ME
Citation: F. Persichetti et al., Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment, NEUROBIOL D, 6(5), 1999, pp. 364-375
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism (vol 8, pg 173, 1999)
Authors: Leeflang, EP Tavare, S Marjoram, P Neal, COS Srinidhi, J MacFarlane, H MacDonald, ME Gusella, JF de Young, M Wexler, NS Arnheim, N
Citation: Ep. Leeflang et al., Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism (vol 8, pg 173, 1999), HUM MOL GEN, 8(4), 1999, pp. 717-717
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
Authors: Leeflang, EP Tavare, S Marjoram, P Neal, COS Srinidhi, J MacDonald, ME de Young, M Wexler, NS Gusella, JF Arnheim, N
Citation: Ep. Leeflang et al., Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism, HUM MOL GEN, 8(2), 1999, pp. 173-183
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
Authors: Wheeler, VC Auerbach, W White, JK Srinidhi, J Auerbach, A Ryan, A Duyao, MP Vrbanac, V Weaver, M Gusella, JF Joyner, AL MacDonald, ME
Citation: Vc. Wheeler et al., Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse, HUM MOL GEN, 8(1), 1999, pp. 115-122
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familiar dysautonomia candidate region on 9q31
Authors: Chadwick, BP Mull, J Helbling, LA Gill, S Leyne, M Robbins, CM Pinkett, HW Makalowska, I Maayan, C Blumenfeld, A Axelrod, FB Brownstein, N Gusella, JF Slaugenhaupt, SA
Citation: Bp. Chadwick et al., Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familiar dysautonomia candidate region on 9q31, GENOMICS, 58(3), 1999, pp. 302-309
Merlin: the neurofibromatosis 2 tumor suppressor
Authors: Gusella, JF Ramesh, V MacCollin, M Jacoby, LB
Citation: Jf. Gusella et al., Merlin: the neurofibromatosis 2 tumor suppressor, BBA-REV CAN, 1423(2), 1999, pp. M29-M36
Clonal analysis of a case of multiple meningiomas using multiple moleculargenetic approaches: Pathology case report
Authors: Zhu, JJG Maruyama, T Jacoby, LB Herman, JG Gusella, JF Black, PM Wu, JK
Citation: Jjg. Zhu et al., Clonal analysis of a case of multiple meningiomas using multiple moleculargenetic approaches: Pathology case report, NEUROSURGER, 45(2), 1999, pp. 409-416
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
Authors: MacDonald, ME Vonsattel, MP Shrinidhi, J Couropmitree, NN Cupples, LA Bird, ED Gusella, JF Myers, RH
Citation: Me. Macdonald et al., Evidence for the GluR6 gene associated with younger onset age of Huntington's disease, NEUROLOGY, 53(6), 1999, pp. 1330-1332
Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer
Authors: Castells, A Ino, Y Louis, DN Ramesh, V Gusella, JF Rustgi, AK
Citation: A. Castells et al., Mapping of a target region of allelic loss to a 0.5-cM interval on chromosome 22q13 in human colorectal cancer, GASTROENTY, 117(4), 1999, pp. 831-837
Mapping of the mucolipidosis type IV gene to chromosome 19p and definitionof founder haplotypes
Authors: Slaugenhaupt, SA Acierno, JS Helbling, LA Bove, C Goldin, E Bach, G Schiffmann, R Gusella, JF
Citation: Sa. Slaugenhaupt et al., Mapping of the mucolipidosis type IV gene to chromosome 19p and definitionof founder haplotypes, AM J HU GEN, 65(3), 1999, pp. 773-778
Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31
Authors: Blumenfeld, A Slaugenhaupt, SA Liebert, CB Temper, V Maayan, C Gill, S Lucente, DE Idelson, M MacCormack, K Monahan, MA Mull, J Leyne, M Mendillo, M Schiripo, T Mishori, E Breakefield, X Axelrod, FB Gusella, JF
Citation: A. Blumenfeld et al., Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31, AM J HU GEN, 64(4), 1999, pp. 1110-1118
Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins
Authors: Huang, CC Faber, PW Persichetti, F Mittal, V Vonsattel, JP MacDonald, ME Gusella, JF
Citation: Cc. Huang et al., Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins, SOM CELL M, 24(4), 1998, pp. 217-233
Genetic variation in the 3 ' untranslated region of the neurofibromatosis 1 gene: Application to unequal allelic expression
Authors: Cowley, GS Murthy, AE Parry, DM Schneider, G Korf, B Upadhyaya, M Harper, P MacCollin, M Bernards, A Gusella, JF
Citation: Gs. Cowley et al., Genetic variation in the 3 ' untranslated region of the neurofibromatosis 1 gene: Application to unequal allelic expression, SOM CELL M, 24(2), 1998, pp. 107-119
Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR
Authors: Chadwick, BP Helbling, LA Angrist, M Chakravarti, A Gusella, JF Slaugenhaupt, SA
Citation: Bp. Chadwick et al., Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR, CYTOG C GEN, 83(3-4), 1998, pp. 236-237
Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2
Authors: Stemmer-Rachamimov, AO Ino, Y Lim, ZY Jacoby, LB MacCollin, M Gusella, JF Ramesh, V Louis, DN
Citation: Ao. Stemmer-rachamimov et al., Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2, J NE EXP NE, 57(12), 1998, pp. 1164-1167
Risultati: 1-25 | 26-26