Canlyniadau Chwilio - Kevin Lüthy
- Dangos 1 - 5 canlyniadau o 5
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Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function gan Baptiste Fischer, Kevin Lüthy, Jone Paesmans, Charlotte De Koninck, Ine Maes, Jef Swerts, Sabine Kuenen, Valerie Uytterhoeven, Patrik Verstreken, Wim Versées
Cyhoeddwyd 2016Artigo -
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<i>STIM1</i>Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity gan Capucine Pïcard, Christie-Ann McCarl, Alexander Papolos, Sara Khalil, Kevin Lüthy, Claire Hivroz, F Ledeist, Frédéric Rieux‐Laucat, Gideon Rechavi, Anjana Rao, Alain Fischer, Stefan Feske
Cyhoeddwyd 2009Artigo -
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TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model gan Kevin Lüthy, Davide Mei, Baptiste Fischer, Maurizio De Fusco, Jef Swerts, Jone Paesmans, Elena Parrini, Naomi Lubarr, Inge A. Meijer, Katherine M. Mackenzie, Wang‐Tso Lee, Davide Cittaro, Paolo Aridon, Nils Schoovaerts, Wim Versées, Patrik Verstreken, Giorgio Casari, Renzo Guerrini
Cyhoeddwyd 2019Artigo -
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<i>TBC1D24</i> genotype–phenotype correlation gan Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya
Cyhoeddwyd 2016Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Cell biology
Gene
Medicine
Disease
Genetics
Immune system
Immunology
Mutation
Adoptive cell transfer
Antibody
Autoimmune hemolytic anemia
Autoimmunity
Biochemistry
Chemistry
Chemokine
Correlation
Dystonia
Endoplasmic reticulum
Epilepsy
Experimental autoimmune encephalomyelitis
Genotype
Genotype-phenotype distinction
Geometry
Hepatosplenomegaly
Immunodeficiency
Inflammation
Internal medicine
Mathematics
Missense mutation