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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M(1)(2), Rendu J(3)(4), Brocard J(4), Lacene E(5), Faure J(3)(4), Brochier G(5), Beuvin M(6), Labasse C(5), Madelaine A(5), Malfatti E(7)(8), Bevilacqua JA(9)(10), Lubieniecki F(11), Monges S(11), Taratuto AL(12), Laporte J(13)(14)(15)(16), Marty I(4), Antonini G(17), Romero NB(5)(6).
Acta Neuropathol Commun Jan. 5, 2019
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A cell cycle-coordinated Polymerase II transcription compartment encompasses gene expression before global genome activation.
Hadzhiev Y(1), Qureshi HK(1), Wheatley L(1), Cooper L(1), Jasiulewicz A(1), Van Nguyen H(2), Wragg JW(1), Poovathumkadavil D(1), Conic S(3)(4), Bajan S(5), Sik A(6)(7), Hutvagner G(5), Tora L(3)(4), Gambus A(1), Fossey JS(2), Muller F(8).
Nat Commun Feb. 11, 2019
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A novel heterozygous ANO3 mutation responsible for myoclonic dystonia.
Laurencin C(1), Broussolle E(2), Danaila T(3), Anheim M(4), Chelly J(5), Thobois S(2).
J Neurol Sci June 13, 2019
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A revisited version of the apo structure of the ligand-binding domain of the human nuclear receptor retinoic X receptor alpha.
Eberhardt J(1), McEwen AG(1), Bourguet W(2), Moras D(1), Dejaegere A(1).
Acta Crystallogr F Struct Biol Commun Feb. 1, 2019
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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Nixon KCJ(1), Rousseau J(2), Stone MH(3), Sarikahya M(4), Ehresmann S(2), Mizuno S(5), Matsumoto N(6), Miyake N(6); DDD Study, Baralle D(7), McKee S(8), Izumi K(9), Ritter AL(9), Heide S(10), Heron D(10), Depienne C(11), Titheradge H(12), Kramer JM(13), Campeau PM(14).
Am J Hum Genet March 12, 2019
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Actin dynamics and the Bmp pathway drive apical extrusion of proepicardial cells.
Andres-Delgado L(1)(2), Ernst A(3), Galardi-Castilla M(1), Bazaga D(1), Peralta M(1)(4), Munch J(5)(6)(7), Gonzalez-Rosa JM(1)(8), Marques I(3), Tessadori F(9), de la Pompa JL(5)(6), Vermot J(4), Mercader N(10)(3).
Development June 7, 2019
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Activation of P-TEFb by RBM7: To Live or Let Die.
Le May N(1), Coin F(2).
Mol Cell April 18, 2019
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Activation of the Endonuclease that Defines mRNA 3' Ends Requires Incorporation into an 8-Subunit Core Cleavage and Polyadenylation Factor Complex.
Hill CH(1), Boreikaite V(1), Kumar A(1), Casanal A(1), Kubik P(1), Degliesposti G(1), Maslen S(1), Mariani A(1), von Loeffelholz O(2), Girbig M(1), Skehel M(1), Passmore LA(3).
Mol Cell Jan. 31, 2019
