Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Alexander M. Rossor(MRC Prion Unit), Kathryn N. North(The University of Sydney), Rahul Phadke(MRC Prion Unit), Emily C. Oates(The University of Sydney), Mary M. Reilly(University College London), Michael Gonzalez(University of Miami), Mariacristina Scoto(University College London), Stephan Züchner(University of Miami), Simon L. Bullock(MRC Laboratory of Molecular Biology), Gyuda Acsadi(Connecticut Children's Medical Center), Caroline A. Sewry(Great Ormond Street Hospital), Hannah K. Salter, Francesco Muntoni(University College London), Sinéad M. Murphy(Trinity College Dublin), Albena Jordanova(VIB-UAntwerp Center for Molecular Neurology), Manoj P. Menezes(The University of Sydney), Janet E. Sowden(University of Rochester Medical Center), Ivan Litvinenko(Medical University of Sofia), Nigel F. Clarke(The University of Sydney), Henry Houlden(National Hospital for Neurology and Neurosurgery), Teodora Chamova(Alexandrovska Hospital), Michaela Auer Grumbach(Medical University of Vienna), Rebecca Schüle(Institute of Human Genetics), David N. Herrmann(University of Rochester Medical Center), Iyailo Tournev(New Bulgarian University), Julian Blake(Norfolk and Norwich University Hospitals NHS Foundation Trust), Yang Liu(Nanchang University), Michael Rodriguez(The University of Sydney)
Cited by 100
Related Papers
Cost of disorders of the brain in Europe 2010
|European Neuropsychopharmacology|2011|1.7k
Optimized CRISPR/Cas tools for efficient germline and somatic genome engineering in <i>Drosophila</i>
|Proceedings of the National Academy of Sciences|2014|1.2k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|805
Augmenting CRISPR applications in Drosophila with tRNA-flanked sgRNAs
|Nature Methods|2016|499
Renal agenesis in mice homozygous for a gene trap mutation in the gene encoding heparan sulfate 2-sulfotransferase
|Genes & Development|1998|449