Coman D - Search Results

1

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia.

Yeo AJ, Chong KL, Gatei M, Zou D, Stewart R, Withey S, Wolvetang E, Parton RG, Brown AD, Kastan MB, Coman D, Lavin MF. Yeo AJ, et al. Among authors: coman d. iScience. 2020 Dec 23;24(1):101972. doi: 10.1016/j.isci.2020.101972. eCollection 2021 Jan 22. iScience. 2020. PMID: 33437944 Free PMC article.

2

An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T).

Yeo AJ, Subramanian GN, Chong KL, Gatei M, Parton RG, Coman D, Lavin MF. Yeo AJ, et al. Among authors: coman d. Mol Metab. 2021 Dec;54:101354. doi: 10.1016/j.molmet.2021.101354. Epub 2021 Oct 9. Mol Metab. 2021. PMID: 34637921 Free PMC article.

3

Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia.

Subramanian GN, Yeo AJ, Gatei MH, Coman DJ, Lavin MF. Subramanian GN, et al. Antioxidants (Basel). 2022 Mar 28;11(4):653. doi: 10.3390/antiox11040653. Antioxidants (Basel). 2022. PMID: 35453338 Free PMC article. Review.

4

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.

Leeson HC, Goh D, Coman D, Wolvetang EJ. Leeson HC, et al. Among authors: coman d. Stem Cell Res. 2022 Oct;64:102917. doi: 10.1016/j.scr.2022.102917. Epub 2022 Sep 14. Stem Cell Res. 2022. PMID: 36166872 Free article.

5

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Nafisinia M, Menezes MJ, Gold WA, Riley L, Hatch J, Cardinal J, Coman D, Christodoulou J. Nafisinia M, et al. Among authors: coman d. Mol Genet Metab. 2018 Mar;123(3):382-387. doi: 10.1016/j.ymgme.2018.01.007. Epub 2018 Feb 2. Mol Genet Metab. 2018. PMID: 29398271

6

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.

Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP. Coss KP, et al. Among authors: coman dj. Mol Genet Metab. 2012 Feb;105(2):212-20. doi: 10.1016/j.ymgme.2011.10.018. Epub 2011 Nov 7. Mol Genet Metab. 2012. PMID: 22133299

7

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP, Minoche AE, Cowley MJ, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: coman d. Genes (Basel). 2021 Apr 20;12(4):607. doi: 10.3390/genes12040607. Genes (Basel). 2021. PMID: 33924034 Free PMC article.

8

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.

Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Kaspi A, et al. Among authors: coman d. Mol Psychiatry. 2023 Apr;28(4):1647-1663. doi: 10.1038/s41380-022-01764-8. Mol Psychiatry. 2023. PMID: 36117209 Free PMC article.

9

Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

Mohammad SS, Coman D, Calvert S. Mohammad SS, et al. Among authors: coman d. J Paediatr Child Health. 2014 Dec;50(12):1025-6. doi: 10.1111/jpc.12613. J Paediatr Child Health. 2014. PMID: 25440161

10

Pediatric Hereditary Neuralgic Amyotrophy: Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 Pathogenesis.

Chuk R, Sheppard M, Wallace G, Coman D. Chuk R, et al. Among authors: coman d. Child Neurol Open. 2016 Sep 19;3:2329048X16668970. doi: 10.1177/2329048X16668970. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503616 Free PMC article.

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