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Research Interests

Papers共 114 篇Author StatisticsCo-AuthorSimilar Experts

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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
Benedicte Alary, Pascal Cintas, Corentin Claude, Olivier Dellis,Corinne Thèze, Charles Van Goethem,Mireille Cossée,Martin Krahn, Valérie Delague,Marc Bartoli
Clinical immunology (Orlando, Fla.) (2024): 110306-110306
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme,Heba Morsy, Stephanie L Safgren,Cecilia Marelli,Annabelle Chaussenot,Damian Smedley, Valentina Cipriani, Jean-Madeleine de Sainte-Agathe, Can Ding, Lise Larrieu,Letizia Vestito,
Brain : a journal of neurology (2024)
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A novel class of Tubulinopathies - Mutations in TUBA4A cause primary skeletal muscle disorders
M. Johari, C. Folland, Y. Saito, M. Oud,A. Topf, S. Kurbatov,L. Pais, A. Cairns, P. Kang, V Straub, A. Beggs, M. Fahey,
NEUROMUSCULAR DISORDERS (2023): S211-S211
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