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

  Loïc BROIX

  Florent COLIN

  Andréa GEOFFROY

  Maria Victoria HINCKELMANN RIVAS

• Doctorants

  Johan GILET

  Karima HABBAS

  Ekaterina IVANOVA

  Hélène JAGLINE

  Francesca MATTIOLI

• Ingénieurs & Techniciens

  Nathalie DROUOT

  Eric FLATTER

  Gabrielle RUDOLF

• Ingenieur Informaticien

  Timothée MAZZUCOTELLI

• Master

  Lisa BAUER

  Karen RUNGE

• Stagiaire

  Marie-Thérèse ABI WARDE

  Meriam HADJ AMOR

Médecine translationnelle et neurogénétique

Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes

Publications

Année : Page :

Imprimer la liste complète

• 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 13 mai 2017.

• Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

  Gebus O(1), Montaut S(1), Monga B(2), Wirth T(1), Cheraud C(1), Alves Do Rego C(1), Zinchenko I(1), Carre G(1), Hamdaoui M(1), Hautecloque G(1), Nguyen-Them L(3), Lannes B(4), Chanson JB(1,)(5), Lagha-Boukbiza O(1,)(5), Fleury MC(1,)(5), Devys D(6), Nicolas G(7,)(8,)(9), Rudolf G(1,)(5,)(10), Bereau M(11), Mallaret M(12), Renaud M(1,)(5), Acquaviva C(13), Koenig M(14), Koob M(15), Kremer S(15), Namer IJ(16), Cazeneuve C(17), Echaniz-Laguna A(1,)(5), Tranchant C(1,)(5,)(10), Anheim M(18,)(19,)(20).

  J Neurol 6 mai 2017.

• A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

  Giorgio E(1), Vaula G(2), Benna P(3,)(4), Lo Buono N(5,)(6), Eandi CM(7), Dino D(8), Mancini C(1), Cavalieri S(9), Di Gregorio E(9), Pozzi E(1), Ferrero M(1), Giordana MT(2,)(3), Depienne C(10,)(11), Brusco A(1,)(9).

  J Neurol Neurosurg Psychiatry 4 mai 2017.

• Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

  Laquerriere A(1), Maillard C(1), Cavallin M(1), Chapon F(1), Marguet F(1), Molin A(1), Sigaudy S(1), Blouet M(1), Benoist G(1), Fernandez C(1), Poirier K(1), Chelly J(1), Thomas S(1), Bahi-Buisson N(1).

  J Neuropathol Exp Neurol 1 mars 2017;76:195-205.

• 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(62).

  J Med Genet 4 avril 2017.

• 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;136:463-479.

• Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

  Marsh AP(1,)(2), Heron D(3,)(4,)(5), Edwards TJ(6,)(7), Quartier A(8), Galea C(9), Nava C(3,)(10), Rastetter A(10), Moutard ML(11,)(12,)(13), Anderson V(14), Bitoun P(15), Bunt J(6), Faudet A(3), Garel C(16), Gillies G(1), Gobius I(6), Guegan J(17), Heide S(3,)(4), Keren B(3,)(10), Lesne F(3), Lukic V(18), Mandelstam SA(2,)(19,)(20), McGillivray G(21), McIlroy A(14), Meneret A(10,)(22), Mignot C(3,)(4,)(5), Morcom LR(6), Odent S(23,)(24), Paolino A(6), Pope K(1), Riant F(25), Robinson GA(26), Spencer-Smith M(14,)(27), Srour M(28,)(29), Stephenson SE(1,)(2), Tankard R(30,)(31), Trouillard O(10), Welniarz Q(10,)(32), Wood A(14,)(33), Brice A(3,)(10), Rouleau G(29,)(34), Attie-Bitach T(35,)(36), Delatycki MB(1,)(2,)(37), Mandel JL(8,)(38), Amor DJ(1,)(2), Roze E(10,)(22), Piton A(8,)(38), Bahlo M(30,)(31), Billette de Villemeur T(5,)(11,)(12,)(39), Sherr EH(40), Leventer RJ(2,)(41,)(42), Richards LJ(6,)(43), Lockhart PJ(1,)(2), Depienne C(3,)(8,)(10,)(38).

  Nat Genet 27 février 2017.

• Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

  Quartier A(1,)(2,)(3,)(4), Poquet H(5,)(6), Gilbert-Dussardier B(7), Rossi M(8), Casteleyn AS(9), Portes VD(10), Feger C(11), Nourisson E(11), Kuentz P(5,)(6), Redin C(1,)(2,)(3,)(4), Thevenon J(5,)(6), Mosca-Boidron AL(12), Callier P(12), Muller J(11,)(13), Lesca G(8), Huet F(6), Geoffroy V(13), El Chehadeh S(6,)(14), Jung M(1,)(2,)(3,)(4), Trojak B(15), Le Gras S(1,)(2,)(3,)(4), Lehalle D(5), Jost B(1,)(2,)(3,)(4), Maury S(14), Masurel A(6), Edery P(8), Thauvin-Robinet C(5,)(6), Gerard B(11), Mandel JL(1,)(2,)(3,)(4,)(11,)(16,)(17), Faivre L(5,)(6), Piton A(1,)(11).

  Eur J Hum Genet Apr 2017;25:423-431.