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Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Among authors: avbersek a. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Digital wearable insole-based identification of knee arthropathies and gait signatures using machine learning.
Wipperman MF, Lin AZ, Gayvert KM, Lahner B, Somersan-Karakaya S, Wu X, Im J, Lee M, Koyani B, Setliff I, Thakur M, Duan D, Breazna A, Wang F, Lim WK, Halasz G, Urbanek J, Patel Y, Atwal GS, Hamilton JD, Stuart S, Levy O, Avbersek A, Alaj R, Hamon SC, Harari O. Wipperman MF, et al. Among authors: avbersek a. Elife. 2024 Apr 30;13:e86132. doi: 10.7554/eLife.86132. Elife. 2024. PMID: 38686919 Free PMC article.
Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort.
Simuni T, Merchant K, Brumm MC, Cho H, Caspell-Garcia C, Coffey CS, Chahine LM, Alcalay RN, Nudelman K, Foroud T, Mollenhauer B, Siderowf A, Tanner C, Iwaki H, Sherer T, Marek K; Parkinson’s Progression Marker Initiative Authors. Simuni T, et al. NPJ Parkinsons Dis. 2022 Oct 22;8(1):140. doi: 10.1038/s41531-022-00404-w. NPJ Parkinsons Dis. 2022. PMID: 36273008 Free PMC article.
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Altmann A, Ryten M, Di Nunzio M, Ravizza T, Tolomeo D, Reynolds RH, Somani A, Bacigaluppi M, Iori V, Micotti E, Di Sapia R, Cerovic M, Palma E, Ruffolo G, Botía JA, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bargallo N, Bartolini E, Bender B, Bergo FPG, Bernardes T, Bernasconi A, Bernasconi N, Bernhardt BC, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carlson C, Carr SJA, Cavalleri GL, Cendes F, Chen J, Chen S, Cherubini A, Concha L, David P, Delanty N, Depondt C, Devinsky O, Doherty CP, Domin M, Focke NK, Foley S, Franca W, Gambardella A, Guerrini R, Hamandi K, Hibar DP, Isaev D, Jackson GD, Jahanshad N, Kälviäinen R, Keller SS, Kochunov P, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Kwan P, Labate A, Langner S, Lenge M, Liu M, Martin P, Mascalchi M, Meletti S, Morita-Sherman ME, O'Brien TJ, Pariente JC, Richardson MP, Rodriguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Striano P, Thesen T, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Wiest R, Yasuda CL, Zhang G, Zhang J; ENIGMA-Epilepsy Working Group; Leu C, Avbersek A; EpiPGX Consortium; Thom M, Whelan CD, Thompson P, McDonald CR, Vezzani A, Sisodiya SM. Altmann A, et al. Among authors: avbersek a. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12758. doi: 10.1111/nan.12758. Epub 2021 Sep 5. Neuropathol Appl Neurobiol. 2022. PMID: 34388852 Free PMC article.
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
35 results