Literature DB >> 29353221

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Aurélien Trimouille1, Émilie Obre2, Guillaume Banneau3, Alexandra Durr4, Giovanni Stevanin5, Fabienne Clot3, Perrine Pennamen6, Jean-Thomas Perez7, Clémence Bailly-Scappaticci7, Marie Rouanet8, Claire Delleci9, Guilhem Sole10, Stéphane Mathis10, Cyril Goizet6.   

Abstract

Entities:  

Keywords:  BICD2; Neuromuscular disorder; Panel sequencing; SMALED2

Mesh：

Substances：

Year:  2018        PMID： 29353221     DOI： 10.1016/j.clineuro.2018.01.013

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  2 in total

1.  Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.

Authors:  Meng-Han Tsai; Haw-Yuan Cheng; Fang-Shin Nian; Chen Liu; Nian-Hsin Chao; Kuo-Liang Chiang; Shu-Fang Chen; Jin-Wu Tsai
Journal:  Acta Neuropathol Commun       Date:  2020-07-14       Impact factor: 7.801

2.  In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Authors:  Daniel C Koboldt; Rama D Kastury; Megan A Waldrop; Benjamin J Kelly; Theresa Mihalic Mosher; Heather McLaughlin; Don Corsmeier; Jonathan L Slaughter; Kevin M Flanigan; Kim L McBride; Lakshmi Mehta; Richard K Wilson; Peter White
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-10-01
  2 in total

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