Cameron J - Search Results

1

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.

Sondheimer N, Aleman A, Cameron J, Gonorazky H, Sabha N, Oliveira P, Amburgey K, Wahedi A, Wang D, Shy M, Dowling JJ. Sondheimer N, et al. Among authors: cameron j. HGG Adv. 2023 Jan 21;4(2):100182. doi: 10.1016/j.xhgg.2023.100182. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36845668 Free PMC article.

2

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

Sondheimer N, Hewson S, Cameron JM, Somers GR, Broadbent JD, Ziosi M, Quinzii CM, Naini AB. Sondheimer N, et al. Mol Genet Metab Rep. 2017 May 11;12:23-27. doi: 10.1016/j.ymgmr.2017.05.001. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28540186 Free PMC article.

3

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD. Santra S, et al. Among authors: cameron jm. Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4. Mol Genet Metab. 2016. PMID: 26971250

4

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM. Vieira P, et al. Among authors: cameron j. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. Mol Genet Metab. 2017. PMID: 28216384

5

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Nimmo GAM, et al. Among authors: cameron j. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351. Hum Mol Genet. 2019. PMID: 30304514 Free PMC article.

6

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

Minenkova A, Jansen EEW, Cameron J, Barto R, Hurd T, MacNeil L, Salomons GS, Mercimek-Andrews S. Minenkova A, et al. Among authors: cameron j. PLoS One. 2021 Sep 8;16(9):e0257073. doi: 10.1371/journal.pone.0257073. eCollection 2021. PLoS One. 2021. PMID: 34495967 Free PMC article.

7

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610

8

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: cameron jm. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

9

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Cameron JM, et al. Eur J Paediatr Neurol. 2015 Sep;19(5):525-32. doi: 10.1016/j.ejpn.2015.05.002. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008862

10

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Cameron JM, et al. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. Hum Genet. 2009. PMID: 19184109

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

3,372 results

Search Page

Filters