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MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
Bettencourt C, Miki Y, Piras IS, de Silva R, Foti SC, Talboom JS, Revesz T, Lashley T, Balazs R, Viré E, Warner TT, Huentelman MJ, Holton JL. Bettencourt C, et al. Among authors: huentelman mj. Neuropathol Appl Neurobiol. 2021 Aug;47(5):640-652. doi: 10.1111/nan.12688. Epub 2021 Jan 19. Neuropathol Appl Neurobiol. 2021. PMID: 33368549 Free PMC article.
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Among authors: huentelman mj. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I. Banuelos E, et al. Among authors: huentelman mj. F1000Res. 2017 Apr 24;6:553. doi: 10.12688/f1000research.10588.1. eCollection 2017. F1000Res. 2017. PMID: 28663785 Free PMC article.
Necroptosis activation in Alzheimer's disease.
Caccamo A, Branca C, Piras IS, Ferreira E, Huentelman MJ, Liang WS, Readhead B, Dudley JT, Spangenberg EE, Green KN, Belfiore R, Winslow W, Oddo S. Caccamo A, et al. Among authors: huentelman mj. Nat Neurosci. 2017 Sep;20(9):1236-1246. doi: 10.1038/nn.4608. Epub 2017 Jul 24. Nat Neurosci. 2017. PMID: 28758999
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Piras IS, et al. Among authors: huentelman mj. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting.
Walsh RR, Krismer F, Galpern WR, Wenning GK, Low PA, Halliday G, Koroshetz WJ, Holton J, Quinn NP, Rascol O, Shaw LM, Eidelberg D, Bower P, Cummings JL, Abler V, Biedenharn J, Bitan G, Brooks DJ, Brundin P, Fernandez H, Fortier P, Freeman R, Gasser T, Hewitt A, Höglinger GU, Huentelman MJ, Jensen PH, Jeromin A, Kang UJ, Kaufmann H, Kellerman L, Khurana V, Klockgether T, Kim WS, Langer C, LeWitt P, Masliah E, Meissner W, Melki R, Ostrowitzki S, Piantadosi S, Poewe W, Robertson D, Roemer C, Schenk D, Schlossmacher M, Schmahmann JD, Seppi K, Shih L, Siderowf A, Stebbins GT, Stefanova N, Tsuji S, Sutton S, Zhang J. Walsh RR, et al. Among authors: huentelman mj. Neurology. 2018 Jan 9;90(2):74-82. doi: 10.1212/WNL.0000000000004798. Epub 2017 Dec 13. Neurology. 2018. PMID: 29237794 Free PMC article.
240 results