Search Results - Martinez-Carrera, Lilian A.

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  1. 1
    Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein

    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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  2. 2
    Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

    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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  3. 3
    Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development

    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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  4. 4
    Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

    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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  5. 5
    Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

    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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