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

• Chercheurs

  Mathieu ANHEIM

  Hélène PUCCIO

  Christine TRANCHANT

  Yvon TROTTIER

• Post-Doctorants

  Diana Carolina MUNOZ LASSO

  Anna NIEWIADOMSKA-CIMICKA

• Doctorants

  Lorraine FIEVET

  Olivier GRISO

  Antoine HACHE

  Ioannis MANOLARAS

• Ingénieurs & Techniciens

  Nadège DIEDHIOU

  Aurélie EISENMANN

  Laurence REUTENAUER

• Collaborateur Occasionnel

  Florian PIERRE

Médecine translationnelle et neurogénétique

Mécanismes fondamentaux et pathophysiologiques impliqués dans les ataxies

Publications

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• 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.

• A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

  Coutelier M(1)(2)(3)(4)(5)(6), Coarelli G(1)(2)(3)(4)(7), Monin ML(7), Konop J(1)(2)(3)(4)(6), Davoine CS(1)(2)(3)(4), Tesson C(1)(2)(3)(4)(6), Valter R(1)(2)(3)(4)(6), Anheim M(8)(9)(10), Behin A(11), Castelnovo G(12), Charles P(7), David A(13), Ewenczyk C(7), Fradin M(14)(15), Goizet C(16)(17), Hannequin D(18), Labauge P(19), Riant F(20), Sarda P(21), Sznajer Y(22), Tison F(23), Ullmann U(24), Van Maldergem L(25)(26), Mochel F(1)(2)(3)(4)(7)(27), Brice A(1)(2)(3)(4)(7), Stevanin G(1)(2)(3)(4)(6)(7), Durr A(1)(2)(3)(4)(7); SPATAX network.

  Brain 1 juin 2017;140:1579-1594.

• ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo.

  Beilschmidt LK(1,)(2,)(3,)(4,)(5), Ollagnier de Choudens S(6,)(7,)(8), Fournier M(1,)(2,)(3,)(4), Sanakis I(9), Hograindleur MA(6,)(7,)(8,)(10), Clemancey M(7,)(8,)(10), Blondin G(7,)(8,)(10), Schmucker S(1,)(2,)(3,)(4,)(5), Eisenmann A(1,)(2,)(3,)(4,)(5), Weiss A(1,)(2,)(3,)(4), Koebel P(1,)(2,)(3,)(4), Messaddeq N(1,)(2,)(3,)(4), Puccio H(1,)(2,)(3,)(4,)(5), Martelli A(1,)(2,)(3,)(4,)(5).

  Nat Commun 11 mai 2017;8:15124.

• Enteric alpha-synuclein pathology in LRRK2-G2019S Parkinson's disease.

  Rouaud T(1), Clairembault T(2), Coron E(3), Neunlist M(4), Anheim M(5), Derkinderen P(6).

  Parkinsonism Relat Disord Jul 2017;40:83-84.

• 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.

• SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

  Montaut S(1), Apartis E(2), Chanson JB(3), Ewenczyk C(4), Renaud M(5), Guissart C(6), Muller J(7), Legrand AP(8), Durr A(9), Laugel V(10), Koenig M(6), Tranchant C(11), Anheim M(12).

  Parkinsonism Relat Disord May 2017;38:80-84.

• Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

  Sellier C(1), Buijsen RA(2), He F(3), Natla S(4), Jung L(5), Tropel P(5), Gaucherot A(5), Jacobs H(6), Meziane H(6), Vincent A(5), Champy MF(6), Sorg T(6), Pavlovic G(6), Wattenhofer-Donze M(6), Birling MC(6), Oulad-Abdelghani M(5), Eberling P(5), Ruffenach F(5), Joint M(5), Anheim M(7), Martinez-Cerdeno V(8), Tassone F(9), Willemsen R(2), Hukema RK(2), Viville S(10), Martinat C(11), Todd PK(12), Charlet-Berguerand N(13).

  Neuron 18 janvier 2017;93:331-347.

• A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

  Renaud M(1,)(2,)(3), Marcel C(1,)(2), Rudolf G(1,)(2,)(3), Schaeffer M(2,)(4), Lagha-Boukbiza O(1,)(2), Chanson JB(1,)(2), Chelly J(2,)(3,)(5), Anheim M(1,)(2,)(3), Tranchant C(6,)(7,)(8).

  BMC Neurol 23 novembre 2016;16:238.