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

• Chercheurs

  Jamel CHELLY

  Anne DE SAINT-MARTIN

  Edouard Franck HIRSCH

  Béatrice LANNES

  Jean-Louis MANDEL

  Hervé MOINE

  Amélie PITON

• Post-Doctorants

  Florent COLIN

  Maria Victoria HINCKELMANN RIVAS

  Francesca MATTIOLI

• Doctorants

  Jérémie COURRAUD

  Johan GILET

  Karima HABBAS

  Ekaterina IVANOVA

• Ingénieurs & Techniciens

  Nathalie DROUOT

  Eric FLATTER

  Timothée MAZZUCOTELLI

  Gabrielle RUDOLF

  Valérie SKORY

• Master

  Thomas WIRTH

• Stagiaire

  Marie-Thérèse ABI WARDE

  Meriam HADJ AMOR

Médecine translationnelle et neurogénétique

Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes

Publications

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• Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome.

  Castillon C(1), Lunion S(1), Desvignes N(1), Hanauer A(2), Laroche S(1), Poirier R(3).

  Neurobiol Dis Jul 2018;115:69-81.

• 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 31 mai 2018.

• Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.

  Lopez-Cuina M(1), Fernagut PO(2), Canron MH(1), Vital A(3), Lannes B(4), De Paula AM(5), Streichenberger N(6), Guehl D(7), Damier P(8), Eusebio A(9), Houeto JL(10), Tison F(11), Tranchant C(12), Viallet F(13), Witjas T(8), Thobois S(14), Meissner WG(15).

  Neurobiol Dis 16 juillet 2018.

• Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

  Montaut S(1), Tranchant C(1)(2)(3), Drouot N(3), Rudolf G(1)(2)(3), Guissart C(4), Tarabeux J(5), Stemmelen T(3), Velt A(5), Fourrage C(6), Nitschke P(6), Gerard B(5), Mandel JL(3)(5), Koenig M(4), Chelly J(2)(3)(5), Anheim M(1)(2)(3); French Parkinsons and Movement Disorders Consortium.

  JAMA Neurol 18 juin 2018.

• De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

  Heinzen EL(1), O'Neill AC(2), Zhu X(1), Allen AS(3)(4), Bahlo M(5)(6), Chelly J(7)(8), Dobyns WB(9)(10), Freytag S(11), Guerrini R(12), Leventer RJ(13)(14)(15), Poduri A(16), Robertson SP(2), Walsh CA(17)(18)(19), Zhang M(4)(20); Epi4K Consortium; Epilepsy Phenome/Genome Project.

  PLoS Genet 8 mai 2018;14:e1007281.

• Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

  Mary L(1), Piton A(2)(3), Schaefer E(4), Mattioli F(5)(6), Nourisson E(1), Feger C(1), Redin C(5)(6), Barth M(7), El Chehadeh S(4)(8), Colin E(7), Coubes C(9), Faivre L(8), Flori E(4), Genevieve D(9), Capri Y(10), Perrin L(10), Fabre-Teste J(10), Timbolschi D(4), Verloes A(10), Olaso R(11), Boland A(11), Deleuze JF(11), Mandel JL(1)(5)(6), Gerard B(1), Giurgea I(12)(13).

  Eur J Hum Genet Jul 2018;26:996-1006.

• AnnotSV: An integrated tool for Structural Variations annotation.

  Geoffroy V(1), Herenger Y(2), Kress A(3), Stoetzel C(1), Piton A(4)(5), Dollfus H(1)(6), Muller J(1)(4).

  Bioinformatics 14 avril 2018.

• A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.

  Dubos A(1)(2)(3)(4), Meziane H(4), Iacono G(5), Curie A(6), Riet F(4), Martin C(7), Loaec N(8), Birling MC(4), Selloum M(4), Normand E(7)(9), Pavlovic G(4), Sorg T(4), Stunnenberg HG(5), Chelly J(1)(2)(3)(10), Humeau Y(7), Friocourt G(8), Herault Y(1)(2)(3)(4).

  Hum Mol Genet 15 juin 2018;27:2138-2153.