The Team
  • Researchers

    Mathieu ANHEIM

    Hélène PUCCIO

    Christine TRANCHANT

  • Post-Doctoral Fellows

    Brahim BELBELLAA

    Françoise PIGUET

    Pankaj Kumar SINGH

  • Phd Students

    Charline DE MONTIGNY

    Tiphaine JAEG

  • Engineers & Technicians

    Aurélie EISENMANN

    Laurence REUTENAUER

    Nadège VAUCAMPS

    Laura ZEPPIERI

  • Master

    Olivier GRISO

  • Trainee

    Camille STREIFF

Translational medicine and neurogenetics

Fundamental and pathophysiological mechanisms implicated in recessive ataxia

Publications

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  • Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.

    Stefely JA(1), Licitra F(2), Laredj L(2), Reidenbach AG(1), Kemmerer ZA(1), Grangeray A(3), Jaeg-Ehret T(2), Minogue CE(4), Ulbrich A(4), Hutchins PD(4), Wilkerson EM(4), Ruan Z(5), Aydin D(6), Hebert AS(7), Guo X(8), Freiberger EC(9), Reutenauer L(2), Jochem A(10), Chergova M(2), Johnson IE(1), Lohman DC(1), Rush MJ(4), Kwiecien NW(4), Singh PK(2), Schlagowski AI(11), Floyd BJ(1), Forsman U(12), Sindelar PJ(13), Westphall MS(7), Pierrel F(14), Zoll J(11), Dal Peraro M(6), Kannan N(5), Bingman CA(9), Coon JJ(15), Isope P(3), Puccio H(16), Pagliarini DJ(17).

    Mol Cell Aug. 18, 2016;63:608-20.

  • XPR1 mutations are a rare cause of primary familial brain calcification.

    Anheim M(1,)(2,)(3), López-Sánchez U(4,)(5,)(6,)(7), Giovannini D(4,)(5,)(6,)(7), Richard AC(8,)(9,)(10), Touhami J(4,)(5,)(6,)(7), N'Guyen L(1,)(2,)(3), Rudolf G(1,)(2,)(3), Thibault-Stoll A(1), Frebourg T(8,)(9,)(11), Hannequin D(8,)(9,)(10,)(11,)(12), Campion D(8,)(9,)(10,)(13), Battini JL(14,)(15,)(16,)(17), Sitbon M(18,)(19,)(20,)(21), Nicolas G(22,)(23,)(24,)(25).

    J Neurol Aug 2016;263:1559-64.

  • SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study.

    Synofzik M(1), Smets K(2), Mallaret M(3), Di Bella D(4), Gallenmüller C(5), Baets J(2), Schulze M(6), Magri S(4), Sarto E(4), Mustafa M(7), Deconinck T(8), Haack T(9), Züchner S(10), Gonzalez M(10), Timmann D(11), Stendel C(12), Klopstock T(5), Durr A(13), Tranchant C(3), Sturm M(6), Hamza W(14), Nanetti L(4), Mariotti C(4), Koenig M(15), Schöls L(16), Schüle R(17), de Jonghe P(2), Anheim M(18), Taroni F(4), Bauer P(6).

    Brain April 17, 2016;139:1378-1393.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 964
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