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626 results

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Page 1
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D, et al. St George-Hyslop P, et al. Among authors: gusella j. Nat Genet. 1992 Dec;2(4):330-4. doi: 10.1038/ng1292-330. Nat Genet. 1992. PMID: 1303289 Free article.
Molecular genetics of human chromosome 4.
Gusella JA, Gilliam TC, MacDonald ME, Cheng SV, Tanzi RE. Gusella JA, et al. J Med Genet. 1986 Jun;23(3):193-9. doi: 10.1136/jmg.23.3.193. J Med Genet. 1986. PMID: 2941587 Free PMC article.
Irradiation-reduced human chromosome 21 hybrids.
Graw S, Davidson J, Gusella J, Watkins P, Tanzi R, Neve R, Patterson D. Graw S, et al. Among authors: gusella j. Somat Cell Mol Genet. 1988 May;14(3):233-42. doi: 10.1007/BF01534584. Somat Cell Mol Genet. 1988. PMID: 3163426
Molecular analysis of chromosome 21 using somatic cell hybrids.
Patterson D, van Keuren M, Drabkin H, Watkins P, Gusella J, Scoggin C. Patterson D, et al. Among authors: gusella j. Ann N Y Acad Sci. 1985;450:109-20. doi: 10.1111/j.1749-6632.1985.tb21487.x. Ann N Y Acad Sci. 1985. PMID: 3860179 No abstract available.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: gusella j. Am J Hum Genet. 2024 Nov 5:S0002-9297(24)00375-6. doi: 10.1016/j.ajhg.2024.10.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39520989
Towards Standardizing Nomenclature in Huntington's Disease Research.
DiFiglia M, Leavitt BR, Macdonald D, Thompson LM; Huntington’s Disease Nomenclature Working Group:. DiFiglia M, et al. J Huntingtons Dis. 2024;13(2):119-131. doi: 10.3233/JHD-240044. J Huntingtons Dis. 2024. PMID: 38968054 Free PMC article. Review.
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium; Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, et al. Among authors: gusella jf. bioRxiv [Preprint]. 2024 Jun 18:2024.06.10.597797. doi: 10.1101/2024.06.10.597797. bioRxiv. 2024. PMID: 38948755 Free PMC article. Preprint.
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: gusella jf. bioRxiv [Preprint]. 2024 Jun 9:2024.06.08.597823. doi: 10.1101/2024.06.08.597823. bioRxiv. 2024. PMID: 38895438 Free PMC article. Preprint.
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.
Jiang A, You L, Handley RR, Hawkins V, Reid SJ, Jacobsen JC, Patassini S, Rudiger SR, Mclaughlan CJ, Kelly JM, Verma PJ, Bawden CS, Gusella JF, MacDonald ME, Waldvogel HJ, Faull RLM, Lehnert K, Snell RG. Jiang A, et al. Among authors: gusella jf. Hum Mol Genet. 2024 Aug 18;33(17):1524-1539. doi: 10.1093/hmg/ddae087. Hum Mol Genet. 2024. PMID: 38776957 Free PMC article.
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Mouro Pinto R, Gusella JF. McLean ZL, et al. Among authors: gusella jf. Nat Commun. 2024 Apr 12;15(1):3182. doi: 10.1038/s41467-024-47485-0. Nat Commun. 2024. PMID: 38609352 Free PMC article.
626 results