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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: lang a. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
Dilliott AA, Berberian SA, Sunderland KM, Binns MA, Zimmer J, Ozzoude M, Scott CJM, Gao F, Lang AE, Breen DP, Tartaglia MC, Tan B, Swartz RH, Rogaeva E, Borrie M, Finger E, Fischer CE, Frank A, Freedman M, Kumar S, Pasternak S, Pollock BG, Rajji TK, Tang-Wai DF, Abrahao A, Turnbull J, Zinman L, Casaubon L, Dowlatshahi D, Hassan A, Mandzia J, Sahlas D, Saposnik G, Grimes D, Marras C, Steeves T, Masellis M, Farhan SMK, Bartha R, Symons S, Hegele RA, Black SE, Ramirez J; ONDRI Investigators. Dilliott AA, et al. Among authors: lang ae. Alzheimers Dement. 2023 Dec;19(12):5583-5595. doi: 10.1002/alz.13316. Epub 2023 Jun 5. Alzheimers Dement. 2023. PMID: 37272523
Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort.
Sunderland KM, Beaton D, Arnott SR, Kleinstiver P, Kwan D, Lawrence-Dewar JM, Ramirez J, Tan B, Bartha R, Black SE, Borrie M, Brien D, Casaubon LK, Coe BC, Cornish B, Dilliott AA, Dowlatshahi D, Finger E, Fischer C, Frank A, Fraser J, Freedman M, Greenberg B, Grimes DA, Hassan A, Hatch W, Hegele RA, Hudson C, Jog M, Kumar S, Lang A, Levine B, Lou W, Mandzia J, Marras C, McIlroy W, Montero-Odasso M, Munoz DG, Munoz DP, Orange JB, Park DS, Pasternak SH, Pieruccini-Faria F, Rajji TK, Roberts AC, Robinson JF, Rogaeva E, Sahlas DJ, Saposnik G, Scott CJM, Seitz D, Shoesmith C, Steeves TDL, Strong MJ, Strother SC, Swartz RH, Symons S, Tang-Wai DF, Tartaglia MC, Troyer AK, Turnbull J, Zinman L, McLaughlin PM, Masellis M, Binns MA; ONDRI Investigators. Sunderland KM, et al. Among authors: lang a. Alzheimers Dement. 2023 Jan;19(1):226-243. doi: 10.1002/alz.12632. Epub 2022 Mar 30. Alzheimers Dement. 2023. PMID: 36318754
White matter hyperintensities and smaller cortical thickness are associated with neuropsychiatric symptoms in neurodegenerative and cerebrovascular diseases.
Ozzoude M, Varriano B, Beaton D, Ramirez J, Adamo S, Holmes MF, Scott CJM, Gao F, Sunderland KM, McLaughlin P, Goubran M, Kwan D, Roberts A, Bartha R, Symons S, Tan B, Swartz RH, Abrahao A, Saposnik G, Masellis M, Lang AE, Marras C, Zinman L, Shoesmith C, Borrie M, Fischer CE, Frank A, Freedman M, Montero-Odasso M, Kumar S, Pasternak S, Strother SC, Pollock BG, Rajji TK, Seitz D, Tang-Wai DF, Turnbull J, Dowlatshahi D, Hassan A, Casaubon L, Mandzia J, Sahlas D, Breen DP, Grimes D, Jog M, Steeves TDL, Arnott SR, Black SE, Finger E, Rabin J; ONDRI Investigators; Tartaglia MC. Ozzoude M, et al. Among authors: lang ae. Alzheimers Res Ther. 2023 Jun 20;15(1):114. doi: 10.1186/s13195-023-01257-y. Alzheimers Res Ther. 2023. PMID: 37340319 Free PMC article.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Boot E, et al. Among authors: lang ae. Genet Med. 2023 Mar;25(3):100344. doi: 10.1016/j.gim.2022.11.012. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729052 Free article.
2,915 results