| 1 | BICD2, SMALED2
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| BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.
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| Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.
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| Muscle Nerve uscle Nerve. 2018 Dec 7. doi: 10.1002/mus.26394. [Epub ahead of print]
2018
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| 2 | BICD2, SMALED2
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| Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
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| Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B.
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| Hum Mol Genet 27(10):1772-1784. doi: 10.1093/hmg/ddy086.
2018
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| 3 | BICD2, SMALED2
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| Distal myopathy due to BICD2 mutations.
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| Souza PVS, Pinto WBVR, Aivazoglou LU, Cardoso FN, Aihara AY, Yamada AF, Naylor FGM, Fernandes ARC, Oliveira ASB.
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| Clin Neurol Neurosurg 165:47-49. doi: 10.1016/j.clineuro.2017.12.023. Epub 2017 Dec 29. No abstract available.
2018
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| 4 | BICD2, SMALED2
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| Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
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| Huynh W, Vale RD.
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| J Cell Biol 216(10):3051-3060. doi: 10.1083/jcb.201703201. Epub 2017 Sep 7.
2017
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| 5 | BICD2, SMALED2
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| Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
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| 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.
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| Eur J Hum Genet 25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.
2017
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| 6 | BICD2, SMALED2
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| Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia.
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| Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, Macarthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.
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| Am J Hum Genet m J Hum Genet. 2013 May 9. doi:pii: S0002-9297(13)00179-1. 10.1016/j.ajhg.2013.04.018. [Epub ahead of print]
2013
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| 7 | BICD2, SMALED2
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| Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance.
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| Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A.
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| Am J Hum Genet m J Hum Genet. 2013 May 7. doi:pii: S0002-9297(13)00174-2. 10.1016/j.ajhg.2013.04.013. [Epub ahead of print]
2013
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| 8 | BICD1, BICD2, SMALED2
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| Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
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| 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.
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| Am J Hum Genet m J Hum Genet. 2013 May 7. doi:pii: S0002-9297(13)00172-9. 10.1016/j.ajhg.2013.04.011. [Epub ahead of print] 2013
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