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Page 1
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Front Neurosci. 2015 Nov 5;9:401. doi: 10.3389/fnins.2015.00401. eCollection 2015.
Front Neurosci. 2015.
PMID: 26594138
Free PMC article.
Review.
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B.
Martinez Carrera LA, et al.
Hum Mol Genet. 2018 May 15;27(10):1772-1784. doi: 10.1093/hmg/ddy086.
Hum Mol Genet. 2018.
PMID: 29528393
Item in Clipboard
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.
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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.
Synofzik M, Martinez-Carrera LA, Lindig T, Schöls L, Wirth B.
Synofzik M, et al. Among authors: martinez carrera la.
J Neurol Neurosurg Psychiatry. 2014 May;85(5):590-2. doi: 10.1136/jnnp-2013-306777. Epub 2013 Dec 11.
J Neurol Neurosurg Psychiatry. 2014.
PMID: 24336790
No abstract available.
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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.
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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
Komlósi K, Hadzsiev K, Garbes L, Martínez Carrera LA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.
Komlósi K, et al. Among authors: martinez carrera la.
Neuromuscul Disord. 2014 Feb;24(2):156-61. doi: 10.1016/j.nmd.2013.10.010. Epub 2013 Nov 11.
Neuromuscul Disord. 2014.
PMID: 24300783
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