IGBMC : Institut de la Génétique et de la Biologie Moléculaire et Cellulaire

• Chercheurs

  Christel DEPIENNE

  Binnaz YALCIN

• Doctorants

  Perrine KRETZ

• Ingénieurs & Techniciens

  Marie-Christine FISCHER

Médecine translationnelle et neurogénétique

Base génétique des maladies cognitives

Publications

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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 24 décembre 2018.

• HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

  Marini C(1)(2), Porro A(3), Rastetter A(4), Dalle C(4), Rivolta I(5), Bauer D(6), Oegema R(7), Nava C(2)(4)(8), Parrini E(1), Mei D(1), Mercer C(9), Dhamija R(10), Chambers C(11), Coubes C(12), Thevenon J(13), Kuentz P(13)(14), Julia S(15), Pasquier L(16), Dubourg C(17), Carre W(17), Rosati A(1), Melani F(1), Pisano T(1), Giardino M(1), Innes AM(18), Alembik Y(19), Scheidecker S(19), Santos M(20), Figueiroa S(20), Garrido C(20), Fusco C(21), Frattini D(21), Spagnoli C(21), Binda A(5), Granata T(22), Ragona F(22), Freri E(22), Franceschetti S(22), Canafoglia L(22), Castellotti B(22), Gellera C(22), Milanesi R(23), Mancardi MM(24), Clark DR(25), Kok F(26), Helbig KL(27), Ichikawa S(28), Sadler L(29), Neupauerova J(30), Lassuthova P(30), Sterbova K(2)(30), Laridon A(31), Brilstra E(2)(7), Koeleman B(2)(7), Lemke JR(2)(32), Zara F(33), Striano P(2)(34), Soblet J(35)(36)(37), Smits G(35)(36)(37), Deconinck N(38), Barbuti A(23), DiFrancesco D(23), LeGuern E(2)(4)(8), Guerrini R(1)(2), Santoro B(39), Hamacher K(6), Thiel G(40), Moroni A(3), DiFrancesco JC(22)(41), Depienne C(2)(4)(42)(43).

  Brain 1 novembre 2018;141:3160-3178.

• Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

  Lilue J(1)(2), Doran AG(1)(2), Fiddes IT(3), Abrudan M(2), Armstrong J(3), Bennett R(1), Chow W(2), Collins J(2), Collins S(4)(5), Czechanski A(6), Danecek P(2), Diekhans M(3), Dolle DD(2), Dunn M(2), Durbin R(2)(7), Earl D(3), Ferguson-Smith A(7), Flicek P(1)(2), Flint J(8), Frankish A(1)(2), Fu B(2), Gerstein M(9), Gilbert J(2), Goodstadt L(10), Harrow J(2), Howe K(2), Ibarra-Soria X(2), Kolmogorov M(11), Lelliott CJ(2), Logan DW(2), Loveland J(1)(2), Mathews CE(12), Mott R(13), Muir P(9), Nachtweide S(14), Navarro FCP(9), Odom DT(15)(16), Park N(2), Pelan S(2), Pham SK(17), Quail M(2), Reinholdt L(6), Romoth L(14), Shirley L(2), Sisu C(9)(18), Sjoberg-Herrera M(19), Stanke M(14), Steward C(2), Thomas M(2), Threadgold G(2), Thybert D(1)(20), Torrance J(2), Wong K(2), Wood J(2), Yalcin B(4), Yang F(2), Adams DJ(2), Paten B(3), Keane TM(21)(22)(23).

  Nat Genet 1 octobre 2018.

• Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

  Marzin P(1), Mignot C(1), Dorison N(2), Dufour L(3), Ville D(4), Kaminska A(5), Panagiotakaki E(6), Dienpendaele AS(7), Penniello MJ(8), Nougues MC(9), Keren B(3), Depienne C(10), Nava C(11), Milh M(12), Villard L(13), Richelme C(14), Rivier C(15), Whalen S(16), Heron D(1), Lesca G(17), Doummar D(18).

  Brain Dev Oct 2018;40:768-774.

• Peripheral Delta Opioid Receptors Mediate Duloxetine Anti-allodynic Effect in a Mouse Model of Neuropathic Pain.

  Ceredig RA(1), Pierre F(1), Doridot S(2)(3), Alduntzin U(1), Salvat E(1)(3), Yalcin I(1), Gaveriaux-Ruff C(4), Barrot M(1), Massotte D(1)(5).

  Eur J Neurosci Sep 2018;48:2231-2246.

• A Method for Parasagittal Sectioning for Neuroanatomical Quantification of Brain Structures in the Adult Mouse.

  Collins SC(1)(2)(3)(4)(5), Wagner C(1)(2)(3)(4), Gagliardi L(1)(2)(3)(4), Kretz PF(1)(2)(3)(4), Fischer MC(1)(2)(3)(4), Kessler P(1)(2)(3)(4), Kannan M(1)(2)(3)(4), Yalcin B(1)(2)(3)(4).

  Curr Protoc Mouse Biol Sep 2018;8:e48.

• DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

  Marsh APL(1)(2), Edwards TJ(3)(4), Galea C(5), Cooper HM(3), Engle EC(6)(7)(8)(9)(10)(11), Jamuar SS(6)(7)(8)(12)(13), Meneret A(14)(15), Moutard ML(16)(17)(18), Nava C(14)(19), Rastetter A(14), Robinson G(20), Rouleau G(21)(22), Roze E(14)(15), Spencer-Smith M(23)(24), Trouillard O(14), Billette de Villemeur T(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium, Heron D(17)(19), Sherr EH(27), Richards LJ(3)(28), Depienne C(14)(19)(29)(30), Leventer RJ(2)(31)(32), Lockhart PJ(1)(2).

  Hum Mutat Jan 2018;39:23-39.

• WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

  Kannan M(1)(2)(3)(4)(5), Bayam E(1)(2)(3)(4), Wagner C(1)(2)(3)(4), Rinaldi B(6), Kretz PF(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Roos M(7), McGillewie L(8), Bar S(6), Minocha S(5), Chevalier C(1)(2)(3)(4), Po C(9); Sanger Mouse Genetics Project, Chelly J(1)(2)(3)(4), Mandel JL(1)(2)(3)(4), Borgatti R(10), Piton A(1)(2)(3)(4), Kinnear C(8), Loos B(7), Adams DJ(11), Herault Y(1)(2)(3)(4), Collins SC(1)(2)(3)(4)(12), Friant S(6), Godin JD(1)(2)(3)(4), Yalcin B(13)(2)(3)(4).

  Proc Natl Acad Sci U S A 12 octobre 2017;114:E9308-E9317.