Van Hove JLK - Search Results

1

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Van Hove JLK, Freeze HH, Abdenur JE. Simon MT, et al. Among authors: van hove jlk. Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12. Mitochondrion. 2017. PMID: 28216230 Free PMC article.

2

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL. Wray CD, et al. Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22. Mitochondrion. 2013. PMID: 24063851

3

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Chatfield KC, et al. Mitochondrion. 2015 Mar;21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6. Mitochondrion. 2015. PMID: 25575635 Free PMC article.

4

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. Knight KM, et al. Among authors: van hove jlk. Mitochondrion. 2020 Nov;55:8-13. doi: 10.1016/j.mito.2020.08.009. Epub 2020 Sep 12. Mitochondrion. 2020. PMID: 32931937 Free PMC article.

5

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Among authors: van hove jlk. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.

6

A novel acceptor stem variant in mitochondrial tRNA^Tyr impairs mitochondrial translation and is associated with a severe phenotype.

Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. Kripps KA, et al. Among authors: van hove jlk. Mol Genet Metab. 2020 Dec;131(4):398-404. doi: 10.1016/j.ymgme.2020.11.006. Epub 2020 Nov 24. Mol Genet Metab. 2020. PMID: 33279411 Free PMC article.

7

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Friederich MW, et al. Among authors: van hove jlk. Mol Genet Metab. 2021 Aug;133(4):362-371. doi: 10.1016/j.ymgme.2021.06.001. Epub 2021 Jun 10. Mol Genet Metab. 2021. PMID: 34140213 Free PMC article.

8

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. Sun L, et al. Am J Med Genet A. 2005 Aug 15;137(1):22-6. doi: 10.1002/ajmg.a.30831. Am J Med Genet A. 2005. PMID: 16007612

9

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. Among authors: van hove jlk, van hove ra. 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.

10

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.

Bennett J, Kerr M, Greenway SC, Friederich MW, Van Hove JLK, Hittel D, Khan A. Bennett J, et al. Among authors: van hove jlk. Mol Genet Metab Rep. 2020 Jun 15;24:100616. doi: 10.1016/j.ymgmr.2020.100616. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32577402 Free PMC article.

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