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

• Doctorants

  Jérémie COURRAUD

  Johan GILET

  Karima HABBAS

  Ekaterina IVANOVA

  Hélène JAGLINE

  Francesca MATTIOLI

• Ingénieurs & Techniciens

  Nathalie DROUOT

  Eric FLATTER

  Timothée MAZZUCOTELLI

  Gabrielle RUDOLF

• Master

  Lisa BAUER

• 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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• 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 12 août 2017.

• Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

  Huang AY(1), Yu D(2), Davis LK(3), Sul JH(4), Tsetsos F(5), Ramensky V(6), Zelaya I(1), Ramos EM(4), Osiecki L(7), Chen JA(1), McGrath LM(8), Illmann C(7), Sandor P(9), Barr CL(10), Grados M(11), Singer HS(11), Nothen MM(12), Hebebrand J(13), King RA(14), Dion Y(15), Rouleau G(16), Budman CL(17), Depienne C(18), Worbe Y(19), Hartmann A(19), Muller-Vahl KR(20), Stuhrmann M(21), Aschauer H(22), Stamenkovic M(23), Schloegelhofer M(23), Konstantinidis A(24), Lyon GJ(25), McMahon WM(26), Barta C(27), Tarnok Z(28), Nagy P(28), Batterson JR(29), Rizzo R(30), Cath DC(31), Wolanczyk T(32), Berlin C(33), Malaty IA(34), Okun MS(34), Woods DW(35), Rees E(36), Pato CN(37), Pato MT(37), Knowles JA(38), Posthuma D(39), Pauls DL(7), Cox NJ(3), Neale BM(40), Freimer NB(4), Paschou P(5), Mathews CA(41), Scharf JM(42), Coppola G(43); Tourette Syndrome Association International Consortium for Genetics (TSAICG); Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI).

  Neuron 21 juin 2017;94:1101-1111.

• 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 16 juin 2017.

• Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

  Wirth T(1), Weibel S(2), Montaut S(3), Bigaut K(1), Rudolf G(1), Chelly J(4), Tranchant C(5), Anheim M(6).

  Parkinsonism Relat Disord Aug 2017;41:127-129.

• 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;134:163-165.

• 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 Jun 2017;264:1118-1126.

• 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.