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Carrera, Lilian A. Martinez, Gabriel, Elke, Donohoe, Colin D., Hoelker, Irmgard, Mariappan, Aruljothi, Storbeck, Markus, Uhlirova, Mirka ORCID: 0000-0002-5735-8287, Gopalakrishnan, Jay and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development. Hum. Mol. Genet., 27 (10). S. 1772 - 1785. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083


Komlosi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Carrera, Lilian A. Martinez, Pal, Endre ORCID: 0000-0001-6525-0754, Sigurosson, Johann Haukur, Magnusson, Olafur, Melegh, Bela and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2014). Exome sequencing identifies Laing distal myopathy MYH7 meutation in a Roma family previously diagnosed with distal neuronopathy. Neuromusc. Disord., 24 (2). S. 156 - 162. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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