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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: hardy j. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease.
Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RMN, Wong BWY, Cheng EYL, Mok KY, Kwok TCY, Mok VCT, Ip FCF; Alzheimer's Disease Neuroimaging Initiative; Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AKY, Ip NY. Zhou X, et al. Among authors: hardy j. Alzheimers Dement. 2024 Dec 10. doi: 10.1002/alz.14214. Online ahead of print. Alzheimers Dement. 2024. PMID: 39655505
Medicinal cannabis - has it found a place in palliative care?
Hardy JR. Hardy JR. Palliat Care Soc Pract. 2024 Dec 5;18:26323524241273491. doi: 10.1177/26323524241273491. eCollection 2024. Palliat Care Soc Pract. 2024. PMID: 39640206 Free PMC article. No abstract available.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: hardy j. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.
Kaiyrzhanov R, Zharkinbekova N, Guliyeva U, Ganieva M, Tavadyan Z, Gachechiladze T, Salayev K, Guliyeva S, Isayan M, Kekenadze M, Sukhudyan B, Gevorgyan A, Hakobyan A, Ibadova R, Tabatadze N, Kurua E, Shatirishvili T, Yerkhojayeva N, Koneev K, Zhumakhanov D, Mukushev A, Jaxybayeva A, Nauryzbayeva A, Isrofilov M, Badalova S, Zeyniyeva N, Hajiyeva I, Alakbarov L, Zeynalova A, Chelban V, Vandrovcova J, Turchetti V, Murphy D, Efthymiou S, Alavi S, Mohammad R, Tkemaladze T, Shashkin C, Tatishvili NN, Beridze M, Khachatryan SG, Melikishvili G, Hardy J, Maroofian R, Houlden H. Kaiyrzhanov R, et al. Among authors: hardy j. Nat Genet. 2024 Dec;56(12):2582-2584. doi: 10.1038/s41588-024-02016-x. Nat Genet. 2024. PMID: 39578646 No abstract available.
Age- and amyloid-β-dependent initiation of neurofibrillary tau tangles: an improved mouse model of Alzheimer's disease without mutations in MAPT.
Desai S, Camporesi E, Brinkmalm G, Alatza A, Wood JI, Tripathi T, Bez S, Stasyuk N, Hajar HB, Saito T, Saido TC, Hardy J, Cummings DM, Hanrieder J, Edwards FA. Desai S, et al. Among authors: hardy j. bioRxiv [Preprint]. 2024 Nov 4:2024.11.04.621900. doi: 10.1101/2024.11.04.621900. bioRxiv. 2024. PMID: 39574656 Free PMC article. Preprint.
3,489 results