PMC Links for OMIM (Select 618242) - PMC

Result Filters

Links from OMIM

Items: 3

Select item 80963461.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

Marisa W. Friederich, Francisco A. Perez, Kaz Knight, Roxanne A. Van Hove, Samuel P. Yang, Russell P. Saneto, Johan L.K. Van Hove

Mol Genet Metab. Author manuscript; available in PMC 2021 May 4.

Published in final edited form as: Mol Genet Metab. 2020 Mar; 129(3): 236–242. Published online 2019 Dec 30. doi: 10.1016/j.ymgme.2019.12.013

PMCID:: PMC8096346

Abstract Article PDF–660K

Select item 36623272.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo G. Nijtmans, Anne Mitchell, Hugo A. Arroyo, Dietz Rating, Adeline Vanderver, Carola G.M. van Berkel, Truus E.M. Abbink, Peter Heutink, Marjo S. van der Knaap

Neurology. 2013 Apr 23; 80(17): 1577–1583. doi: 10.1212/WNL.0b013e31828f1914

PMCID:: PMC3662327

Abstract Article PDF–564K

Select item 29779783.

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel A Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn, Vamsi K Mootha

Nat Genet. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Nat Genet. 2010 Oct; 42(10): 851–858. Published online 2010 Sep 5. doi: 10.1038/ng.659