Chrzanowska-Lightowlers ZMA - Search Results

1

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Chen W, Rehsi P, Thompson K, Yeo M, Stals K, He L, Schimmel P, Chrzanowska-Lightowlers ZMA, Wakeling E, Taylor RW, Kuhle B. Chen W, et al. Among authors: chrzanowska lightowlers zma. Mol Genet Metab. 2023 Nov;140(3):107657. doi: 10.1016/j.ymgme.2023.107657. Epub 2023 Jul 24. Mol Genet Metab. 2023. PMID: 37523899

2

GRSF1 regulates RNA processing in mitochondrial RNA granules.

Jourdain AA, Koppen M, Wydro M, Rodley CD, Lightowlers RN, Chrzanowska-Lightowlers ZM, Martinou JC. Jourdain AA, et al. Cell Metab. 2013 Mar 5;17(3):399-410. doi: 10.1016/j.cmet.2013.02.005. Cell Metab. 2013. PMID: 23473034 Free PMC article.

3

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.

Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM. Serre V, et al. Biochim Biophys Acta. 2013 Aug;1832(8):1304-12. doi: 10.1016/j.bbadis.2013.04.014. Epub 2013 Apr 18. Biochim Biophys Acta. 2013. PMID: 23603806 Free PMC article.

4

Structure based hypothesis of a mitochondrial ribosome rescue mechanism.

Huynen MA, Duarte I, Chrzanowska-Lightowlers ZM, Nabuurs SB. Huynen MA, et al. Biol Direct. 2012 May 8;7:14. doi: 10.1186/1745-6150-7-14. Biol Direct. 2012. PMID: 22569235 Free PMC article.

5

Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria.

Dujeancourt L, Richter R, Chrzanowska-Lightowlers ZM, Bonnefoy N, Herbert CJ. Dujeancourt L, et al. Mitochondrion. 2013 Nov;13(6):871-80. doi: 10.1016/j.mito.2013.07.115. Epub 2013 Jul 24. Mitochondrion. 2013. PMID: 23892058 Free PMC article.

6

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.

Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZM, Dong L, Figlewicz DA, Shaw PJ. Menzies FM, et al. Brain. 2002 Jul;125(Pt 7):1522-33. doi: 10.1093/brain/awf167. Brain. 2002. PMID: 12077002

7

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Chrzanowska-Lightowlers ZM, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. Deschauer M, et al. Mol Genet Metab. 2003 Jun;79(2):124-8. doi: 10.1016/s1096-7192(03)00067-2. Mol Genet Metab. 2003. PMID: 12809643

8

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. Maniura-Weber K, et al. Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185. Eur J Hum Genet. 2004. PMID: 15054399

9

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZM, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Bidooki S, et al. Neuromuscul Disord. 2004 Jul;14(7):417-20. doi: 10.1016/j.nmd.2004.03.004. Neuromuscul Disord. 2004. PMID: 15210164

10

Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.

Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZM, White CB, Shield JP, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Blakely EL, et al. Pediatr Res. 2006 Mar;59(3):440-4. doi: 10.1203/01.pdr.0000198771.78290.c4. Pediatr Res. 2006. PMID: 16492986

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

86 results

Search Page

Filters