Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features by Storbeck, Markus, Horsberg Eriksen, Beate, Unger, Andreas, Hölker, Irmgard, Aukrust, Ingvild, Martínez-Carrera, Lilian A, Linke, Wolfgang A, Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar, Wirth, Brunhilde

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Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein by Martinez-Carrera, Lilian A, Wirth, Brunhilde

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy by Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde

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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy by Komlósi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Martínez Carrera, Lilian A, Pál, Endre, Sigurðsson, Jóhann Haukur, Magnusson, Olafur, Melegh, Béla, Wirth, Brunhilde

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Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development by Martinez Carrera, Lilian A, Gabriel, Elke, Donohoe, Colin D, Hölker, Irmgard, Mariappan, Aruljothi, Storbeck, Markus, Uhlirova, Mirka, Gopalakrishnan, Jay, Wirth, Brunhilde

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Neuronal-specific deficiency of the splicing factor Tra2b causes apoptosis in neurogenic areas of the developing mouse brain by Storbeck, Markus, Hupperich, Kristina, Gaspar, John Antonydas, Meganathan, Kesavan, Martínez Carrera, Lilian, Wirth, Radu, Sachinidis, Agapios, Wirth, Brunhilde

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Scale-up and optimization of the spray drying conditions for the development of functional microparticles based on chia oil by Bordón, María Gabriela, Alasino, Noelia Pía Ximena, Villanueva-Lazo, Álvaro, Carrera-Sánchez, Cecilio, Pedroche-Jiménez, Justo, Millán-Linares, María del Carmen, Ribotta, Pablo Daniel, Martínez, Marcela Lilian

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Maximizing Safety and Efficacy in Hematopoietic Stem Cell Gene Therapy by Giommetti, Aurora, Barra, Arianna, Bosbach, Christin Laura, Olevska, Valeriya, Dzionek, Julia, Soltenborn, Stephanie, Hebbeker, Felix, Oberbörsch, Svenja, Martinez Carrera, Lilian Andrea, Jelveh, Nojan, Bisdorf, Kevin, Matzke, Simona Karolin, Khorkova, Svetlana, Wöhle, Christian, Tomiuk, Stefan, Bosio, Andreas, Papanikolaou, Eleni

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Abstract 56: Unlocking primary cell culture for more relevant in vitro models by Theek, Benjamin, Franke, Anne, Agorku, David, Lamfried, Katharina, Jelveh, Nojan, Linnebacher, Michael, Carrera, Lilian Martinez, Hardt, Olaf

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Neuronal-Specific Deficiency of the Splicing Factor Tra2b Causes Apoptosis in Neurogenic Areas of the Developing Mouse Brain: e89020 by Storbeck, Markus, Hupperich, Kristina, Gaspar, John Antonydas, Meganathan, Kesavan, Carrera, Lilian Martinez, Wirth, Radu, Sachinidis, Agapios, Wirth, Brunhilde

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