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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2009 | 1 |
2010 | 1 |
2011 | 1 |
2012 | 1 |
2013 | 1 |
2016 | 1 |
2019 | 1 |
2020 | 2 |
2021 | 1 |
2024 | 0 |
PubMed (cited) for id: 613621
7 results
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Page 1
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9.
J Med Genet. 2021.
PMID: 32518176
Review.
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK.
Friederich MW, et al.
Mol Genet Metab. 2020 Mar;129(3):236-242. doi: 10.1016/j.ymgme.2019.12.013. Epub 2019 Dec 30.
Mol Genet Metab. 2020.
PMID: 31917109
Free PMC article.
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High-throughput discovery of novel developmental phenotypes.
Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center; MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.
Dickinson ME, et al.
Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.
Nature. 2016.
PMID: 27626380
Free PMC article.
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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.
Kevelam SH, et al.
Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.
Neurology. 2013.
PMID: 23553477
Free PMC article.
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Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR.
Tucker EJ, et al.
Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22.
Hum Mutat. 2012.
PMID: 22072591
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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK.
Calvo SE, et al.
Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.
Nat Genet. 2010.
PMID: 20818383
Free PMC article.
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Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.
Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsässer HP, Wittig I, Balk J, Brandt U, Lill R.
Sheftel AD, et al.
Mol Cell Biol. 2009 Nov;29(22):6059-73. doi: 10.1128/MCB.00817-09. Epub 2009 Sep 14.
Mol Cell Biol. 2009.
PMID: 19752196
Free PMC article.
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