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Year Number of Results
2013 3
2014 3
2015 1
2016 1
2017 1
2018 1
2022 0
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Page 1
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Unger A, et al. Among authors: martinez carrera l. Neurology. 2016 Nov 22;87(21):2235-2243. doi: 10.1212/WNL.0000000000003360. Epub 2016 Oct 26. Neurology. 2016. PMID: 27784775
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Storbeck M, et al. Among authors: martinez carrera la. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635954 Free PMC article.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B. Neveling K, et al. Among authors: martinez carrera la. Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664116 Free PMC article.