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Number of items: 3.

Journal Article

Martinez-Carrera, Lilian A. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2015). Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front. Neurosci., 9. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Storbeck, Markus, Eriksen, Beate Horsberg, Unger, Andreas, Hoelker, Irmgard, Aukrust, Ingvild, Martinez-Carrera, Lilian A., Linke, Wolfgang A., Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur. J. Hum. Genet., 25 (9). S. 1040 - 1049. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Synofzik, Matthis ORCID: 0000-0002-2280-7273, Martinez-Carrera, Lilian A., Lindig, Tobias, Schoels, Ludger and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2014). Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J. Neurol. Neurosurg. Psychiatry, 85 (5). S. 590 - 593. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-330X

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