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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: huentelman mj. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
Dynamic transcriptomic responses to divergent acute exercise stimuli in young adults.
Lavin KM, Graham ZA, McAdam JS, O'Bryan SM, Drummer D, Bell MB, Kelley CJ, Lixandrão ME, Peoples B, Tuggle SC, Seay RS, Van Keuren-Jensen K, Huentelman MJ, Pirrotte P, Reiman R, Alsop E, Hutchins E, Antone J, Bonfitto A, Meechoovet B, Palade J, Talboom JS, Sullivan A, Aban I, Peri K, Broderick TJ, Bamman MM. Lavin KM, et al. Among authors: huentelman mj. Physiol Genomics. 2023 Apr 1;55(4):194-212. doi: 10.1152/physiolgenomics.00144.2022. Epub 2023 Mar 20. Physiol Genomics. 2023. PMID: 36939205 Free PMC article. Clinical Trial.
New directions for Alzheimer's disease research from the Jackson Laboratory Center for Alzheimer's and Dementia Research 2022 workshop.
Telpoukhovskaia MA, Murdy TJ, Marola OJ, Charland K, MacLean M, Luquez T, Lish AM, Neuner S, Dunn A, Onos KD, Wiley J, Archer D, Huentelman MJ, Arnold M, Menon V, Goate A, Van Eldik LJ, Territo PR, Howell GR, Carter GW, O'Connell KMS, Kaczorowski CC; 2022 JAX CADR Workshop. Telpoukhovskaia MA, et al. Among authors: huentelman mj. Alzheimers Dement (N Y). 2024 Mar 10;10(1):e12458. doi: 10.1002/trc2.12458. eCollection 2024 Jan-Mar. Alzheimers Dement (N Y). 2024. PMID: 38469553 Free PMC article. Review.
220 results