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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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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.
Donkervoort S(1), Dowling JJ(2), Laporte J(3), MacArthur D(4), Bonnemann CG(1); 214th ENMC workshop participants.
Neuromuscul Disord July 13, 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 genome-wide screen identifies IRF2 as a key regulator of caspase-4 in human cells.
Benaoudia S(1), Martin A(1), Puig Gamez M(2)(3)(4)(5), Gay G(1), Lagrange B(1), Cornut M(1), Krasnykov K(1), Claude JB(6), Bourgeois CF(6), Hughes S(7), Gillet B(7), Allatif O(1)(8), Corbin A(1)(8), Ricci R(2)(3)(4)(5), Henry T(1).
EMBO Rep Jul 29:e48235 2019
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A molecular tool targeting the base flipping activity of human UHRF1.
Zaayter L(1), Mori M(2), Ahmad T(1), Ashraf W(1), Boudier C(1), Kilin V(1), Gavvala K(1), Richert L(1), Eiler S(3), Ruff M(3), Botta M(2), Bronner C(3), Mousli M(1), Mely Y(4).
Chemistry July 19, 2019
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A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R(1), Fanning EA(1), Depienne C(2)(3)(4), Sarmady M(1)(5), Abou Tayoun AN(6).
Hum Mutat Mar 2019
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A new BCR-ABL1 Drosophila model as a powerful tool to elucidate pathogenesis and progression of chronic myeloid leukemia.
Bernardoni R(1), Giordani G(2), Signorino E(3), Monticelli S(1), Messa F(1), Pradotto M(3), Rosso V(3), Bracco E(4), Giangrande A(5), Perini G(2), Saglio G(3), Cilloni D(6).
Haematologica Apr 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
