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Page 1
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB. Uzilov AV, et al. Among authors: hefti m. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001602. doi: 10.1101/mcs.a001602. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487882 Free PMC article.
Formalin tissue fixation biases myelin-sensitive MRI.
Seifert AC, Umphlett M, Hefti M, Fowkes M, Xu J. Seifert AC, et al. Among authors: hefti m. Magn Reson Med. 2019 Oct;82(4):1504-1517. doi: 10.1002/mrm.27821. Epub 2019 May 24. Magn Reson Med. 2019. PMID: 31125149 Free PMC article.
Aicardi syndrome in a 20-year-old female.
Mavrommatis MA, Friedman AH, Fowkes ME, Hefti MM. Mavrommatis MA, et al. Among authors: hefti mm. Am J Ophthalmol Case Rep. 2018 Sep 6;12:61-64. doi: 10.1016/j.ajoc.2018.09.004. eCollection 2018 Dec. Am J Ophthalmol Case Rep. 2018. PMID: 30238067 Free PMC article.
Tau Phosphorylation and Aggregation in the Developing Human Brain.
Hefti MM, Kim S, Bell AJ, Betters RK, Fiock KL, Iida MA, Smalley ME, Farrell K, Fowkes ME, Crary JF. Hefti MM, et al. J Neuropathol Exp Neurol. 2019 Oct 1;78(10):930-938. doi: 10.1093/jnen/nlz073. J Neuropathol Exp Neurol. 2019. PMID: 31504677 Free PMC article.
β-amyloid and tau pathology in the aging feline brain.
Fiock KL, Smith JD, Crary JF, Hefti MM. Fiock KL, et al. Among authors: hefti mm. J Comp Neurol. 2020 Jan 1;528(1):108-113. doi: 10.1002/cne.24741. Epub 2019 Jul 12. J Comp Neurol. 2020. PMID: 31273784 Free PMC article.
Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Farrell K, Kim S, Han N, Iida MA, Gonzalez EM, Otero-Garcia M, Walker JM, Richardson TE, Renton AE, Andrews SJ, Fulton-Howard B, Humphrey J, Vialle RA, Bowles KR, de Paiva Lopes K, Whitney K, Dangoor DK, Walsh H, Marcora E, Hefti MM, Casella A, Sissoko CT, Kapoor M, Novikova G, Udine E, Wong G, Tang W, Bhangale T, Hunkapiller J, Ayalon G, Graham RR, Cherry JD, Cortes EP, Borukov VY, McKee AC, Stein TD, Vonsattel JP, Teich AF, Gearing M, Glass J, Troncoso JC, Frosch MP, Hyman BT, Dickson DW, Murray ME, Attems J, Flanagan ME, Mao Q, Mesulam MM, Weintraub S, Woltjer RL, Pham T, Kofler J, Schneider JA, Yu L, Purohit DP, Haroutunian V, Hof PR, Gandy S, Sano M, Beach TG, Poon W, Kawas CH, Corrada MM, Rissman RA, Metcalf J, Shuldberg S, Salehi B, Nelson PT, Trojanowski JQ, Lee EB, Wolk DA, McMillan CT, Keene CD, Latimer CS, Montine TJ, Kovacs GG, Lutz MI, Fischer P, Perrin RJ, Cairns NJ, Franklin EE, Cohen HT, Raj T, Cobos I, Frost B, Goate A, White Iii CL, Crary JF. Farrell K, et al. Among authors: hefti mm. Acta Neuropathol. 2022 Jan;143(1):33-53. doi: 10.1007/s00401-021-02379-z. Epub 2021 Nov 1. Acta Neuropathol. 2022. PMID: 34719765 Free PMC article.
164 results