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Displaying 2 results.
    • Journal article
    Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
    Koehler, Katrin Malik, Meera Mahmood, Saqib Gießelmann, Sebastian Beetz, Christian Hennings, J Christopher Huebner, Antje K Grahn, Ammi[UCL] Reunert, Janine Nürnberg, Gudrun Thiele, Holger Altmüller, Janine Nürnberg, Peter Mumtaz, Rizwan Babovic-Vuksanovic, Dusica Basel-Vanagaite, Lina Borck, Guntram Brämswig, Jürgen Mühlenberg, Reinhard Sarda, Pierre Sikiric, Alma Anyane-Yeboa, Kwame Zeharia, Avraham Ahmad, Arsalan Coubes, Christine Wada, Yoshinao Marquardt, Thorsten Vanderschaeghe, Dieter Van Schaftingen, Emile[UCL] Kurth, Ingo Huebner, Angela Hübner, Christian A (2013) American Journal of Human Genetics — Vol. 93, no.4, p. 727-734 (2013)
    • Journal article
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier, Marie[UCL] Coarelli, Giulia Monin, Marie-Lorraine Konop, Juliette Davoine, Claire-Sophie Tesson, Christelle Valter, Rémi Anheim, Mathieu Behin, Anthony Castelnovo, Giovanni Charles, Perrine David, Albert Ewenczyk, Claire Fradin, Mélanie Goizet, Cyril Hannequin, Didier Labauge, Pierre Riant, Florence Sarda, Pierre Sznajer, Yves[UCL] Tison, François Ullmann, Urielle Van Maldergem, Lionel Mochel, Fanny Brice, Alexis Stevanin, Giovanni Durr, Alexandra SPATAX network (2017) Brain : a journal of neurology — Vol. 140, no.6, p. 1579-1594 (2017)