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Médecine translationnelle et neurogénétique

  • Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

    Depienne C(1,)(2,)(3,)(4,)(5), Nava C(6,)(7,)(8), Keren B(6,)(7), Heide S(7,)(9), Rastetter A(6), Passemard S(10,)(11,)(12), Chantot-Bastaraud S(13), Moutard ML(14,)(15,)(16), Agrawal PB(17), VanNoy G(17), Stoler JM(17), Amor DJ(18,)(19), Billette de Villemeur T(12,)(14,)(15,)(20), Doummar D(14,)(16), Alby C(21,)(22), Cormier-Daire V(23,)(22), Garel C(24), Marzin P(7), Scheidecker S(25), de Saint-Martin A(26,)(27), Hirsch E(26,)(28), Korff C(29), Bottani A(30), Faivre L(31,)(32), Verloes A(11), Orzechowski C(33), Burglen L(12,)(34,)(35), Leheup B(36), Roume J(37), Andrieux J(38), Sheth F(39), Datar C(40), Parker MJ(41), Pasquier L(42), Odent S(42,)(43,)(44), Naudion S(45), Delrue MA(45,)(46), Le Caignec C(47,)(48), Vincent M(47), Isidor B(47,)(48), Renaldo F(10,)(14), Stewart F(49), Toutain A(50), Koehler U(51), Hackl B(52), von Stulpnagel C(52), Kluger G(52,)(53), Mller RS(54,)(55,)(8), Pal D(56,)(8), Jonson T(57), Soller M(58), Verbeek NE(59), van Haelst MM(59), de Kovel C(59), Koeleman B(59,)(60,)(8), Monroe G(59,)(60), van Haaften G(59,)(60); DDD Study, Attie-Bitach T(21,)(22), Boutaud L(21,)(22), Heron D(7,)(9,)(20), Mignot C(61,)(62,)(63,)(64).

    Hum Genet Apr 2017

  • Genome-wide Analysis of RARbeta Transcriptional Targets in Mouse Striatum Links Retinoic Acid Signaling with Huntington's Disease and Other Neurodegenerative Disorders.

    Niewiadomska-Cimicka A(1)(2)(3)(4)(5), Krzyzosiak A(1)(2)(3)(4)(5)(6), Ye T(1)(2)(3)(4), Podlesny-Drabiniok A(1)(2)(3)(4)(5), Dembele D(1)(2)(3)(4), Dolle P(1)(2)(3)(4)(5), Krezel W(7)(8)(9)(10)(11).

    Mol Neurobiol Jul 2017

  • GPR88 in A2A receptor-expressing neurons modulates locomotor response to dopamine agonists but not sensorimotor gating.

    Meirsman AC(1)(2), de Kerchove d'Exaerde A(3), Kieffer BL(1)(4), Ouagazzal AM(1)(5).

    Eur J Neurosci Aug 2017

  • GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

    Platzer K(1), Yuan H(2)(3), Schutz H(4), Winschel A(4), Chen W(2), Hu C(2), Kusumoto H(2), Heyne HO(1), Helbig KL(5), Tang S(5), Willing MC(6), Tinkle BT(7), Adams DJ(8), Depienne C(9)(10)(11)(12), Keren B(9)(10), Mignot C(10), Frengen E(13), Strmme P(14), Biskup S(15), Docker D(15), Strom TM(16), Mefford HC(17), Myers CT(17), Muir AM(17), LaCroix A(17), Sadleir L(18), Scheffer IE(19), Brilstra E(20), van Haelst MM(20), van der Smagt JJ(20), Bok LA(21), Mller RS(22)(23), Jensen UB(24), Millichap JJ(25), Berg AT(25), Goldberg EM(26)(27), De Bie I(28), Fox S(28), Major P(29), Jones JR(30), Zackai EH(31), Abou Jamra R(1)(32), Rolfs A(32), Leventer RJ(33)(34), Lawson JA(35), Roscioli T(36), Jansen FE(37), Ranza E(38), Korff CM(39), Lehesjoki AE(40)(41), Courage C(40)(41), Linnankivi T(42), Smith DR(43), Stanley C(43), Mintz M(44), McKnight D(45), Decker A(45), Tan WH(46), Tarnopolsky MA(47), Brady LI(47), Wolff M(48), Dondit L(49), Pedro HF(50), Parisotto SE(50), Jones KL(51), Patel AD(52)(53), Franz DN(54), Vanzo R(55), Marco E(56), Ranells JD(57), Di Donato N(58), Dobyns WB(59)(60)(61), Laube B(4), Traynelis SF(2)(3), Lemke JR(1).

    J Med Genet Jul 2017

  • Histone propionylation is a mark of active chromatin.

    Kebede AF(1)(2), Nieborak A(3), Shahidian LZ(3), Le Gras S(1), Richter F(2)(4), Gomez DA(3)(5), Baltissen MP(6), Meszaros G(1)(7)(8), Magliarelli HF(1), Taudt A(9)(10), Margueron R(11), Colome-Tatche M(9)(10)(12), Ricci R(1)(7)(8), Daujat S(1), Vermeulen M(6), Mittler G(2), Schneider R(1)(3)(13).

    Nat Struct Mol Biol Dec 2017

  • Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

    Ivanova EL(1), Mau-Them FT(2), Riazuddin S(3), Kahrizi K(4), Laugel V(5), Schaefer E(6), de Saint Martin A(7), Runge K(1), Iqbal Z(8), Spitz MA(5), Laura M(9), Drouot N(1), Gerard B(9), Deleuze JF(10), de Brouwer APM(11), Razzaq A(12), Dollfus H(6), Assir MZ(13), Nitchke P(14), Hinckelmann MV(1), Ropers H(15), Riazuddin S(13), Najmabadi H(4), van Bokhoven H(11), Chelly J(16).

    Am J Hum Genet 7 septembre 2017

  • HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

    Echaniz-Laguna A(1), Lornage X(2), Lannes B(3), Schneider R(4), Bierry G(5), Dondaine N(6), Boland A(7), Deleuze JF(7), Bohm J(2), Thompson J(4), Laporte J(2), Biancalana V(2)(6).

    Acta Neuropathol Jul 2017

  • IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.

    Meyer A(1)(2)(3), Laverny G(4)(5), Allenbach Y(6), Grelet E(4)(5), Ueberschlag V(4)(5), Echaniz-Laguna A(7), Lannes B(8), Alsaleh G(4), Charles AL(9)(4), Singh F(9)(4), Zoll J(9)(4), Lonsdorfer E(9)(4), Maurier F(10), Boyer O(11), Gottenberg JE(12)(4), Nicot AS(4)(5), Laporte J(4)(5), Benveniste O(6), Metzger D(4)(5), Sibilia J(12)(4), Geny B(9)(4).

    Acta Neuropathol Oct 2017

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