Van Hove JLK - Search Results

1

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.

2

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.

Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Friederich MW, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15. J Inherit Metab Dis. 2020. PMID: 32160317 Free PMC article.

3

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.

4

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.

5

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR 2nd. Wempe MF, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2019 May;42(3):565-574. doi: 10.1002/jimd.12059. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30663059

6

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.

Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Swanson MA, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2022 Jul;45(4):734-747. doi: 10.1002/jimd.12500. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35357708 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

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

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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