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Journal Article
 
 
    
    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
  
  
		