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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Harms MB, et al. Among authors: bell s. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. Ann Neurol. 2012. PMID: 22334415 Free PMC article.
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Harms MB, et al. Among authors: bell s. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459677 Free PMC article.
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH. Sareen D, et al. Among authors: bell s. Sci Transl Med. 2013 Oct 23;5(208):208ra149. doi: 10.1126/scitranslmed.3007529. Sci Transl Med. 2013. PMID: 24154603 Free PMC article.
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.
O'Rourke JG, Bogdanik L, Muhammad AKMG, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, Ho R, Bell S, Carmona S, Simpkinson M, Lall D, Wu K, Daughrity L, Dickson DW, Harms MB, Petrucelli L, Lee EB, Lutz CM, Baloh RH. O'Rourke JG, et al. Among authors: bell s. Neuron. 2015 Dec 2;88(5):892-901. doi: 10.1016/j.neuron.2015.10.027. Neuron. 2015. PMID: 26637796 Free PMC article.
C9orf72 is required for proper macrophage and microglial function in mice.
O'Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH. O'Rourke JG, et al. Among authors: bell s. Science. 2016 Mar 18;351(6279):1324-9. doi: 10.1126/science.aaf1064. Science. 2016. PMID: 26989253 Free PMC article.
3,824 results