Vernon HJ - Search Results

1

Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.

Carey AR, Miller NR, Cui H, Allis K, Balog A, Bai R, Vernon HJ. Carey AR, et al. Among authors: vernon hj. J Neuroophthalmol. 2024 Jun 1;44(2):247-252. doi: 10.1097/WNO.0000000000001984. Epub 2023 Sep 4. J Neuroophthalmol. 2024. PMID: 37665646

2

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, Cameron AM, Myers D, Venditti CP, Valle D. Vernon HJ, et al. J Inherit Metab Dis. 2014 Nov;37(6):899-907. doi: 10.1007/s10545-014-9730-7. Epub 2014 Jun 25. J Inherit Metab Dis. 2014. PMID: 24961826 Free PMC article.

3

[No title available]

[No authors listed] [No authors listed] PMID: 35556725

4

Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.

Ziegler SG, Kim J, Ehmsen JT, Vernon HJ. Ziegler SG, et al. Among authors: vernon hj. Dis Model Mech. 2023 Nov 1;16(11):dmm050233. doi: 10.1242/dmm.050233. Epub 2023 Nov 23. Dis Model Mech. 2023. PMID: 37994477 Free PMC article.

5

6p25 microdeletion: white matter abnormalities in an adult patient.

Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R. Vernon HJ, et al. Am J Med Genet A. 2013 Jul;161A(7):1686-9. doi: 10.1002/ajmg.a.35937. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686687

6

Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Srivastava S, et al. Am J Med Genet A. 2019 Aug;179(8):1556-1564. doi: 10.1002/ajmg.a.61188. Epub 2019 May 17. Am J Med Genet A. 2019. PMID: 31099476

7

Mitochondrial ataxias.

Vernon HJ, Bindoff LA. Vernon HJ, et al. Handb Clin Neurol. 2018;155:129-141. doi: 10.1016/B978-0-444-64189-2.00009-3. Handb Clin Neurol. 2018. PMID: 29891055 Review.

8

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.

Kim J, Pipitone Dempsey A, Kim SY, Gunay-Aygun M, Vernon HJ. Kim J, et al. Among authors: vernon hj. Case Rep Genet. 2022 Aug 30;2022:7138435. doi: 10.1155/2022/7138435. eCollection 2022. Case Rep Genet. 2022. PMID: 36082373 Free PMC article.

9

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.

Vernon HJ, McClellan R, Batista DA, Naidu S. Vernon HJ, et al. Am J Med Genet A. 2015 May;167A(5):1147-51. doi: 10.1002/ajmg.a.36993. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25851414

10

PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.

A Almuqbil M, Vernon HJ, Ferguson M, Kline AD. A Almuqbil M, et al. Among authors: vernon hj. Mol Genet Metab Rep. 2020 Jun 2;24:100613. doi: 10.1016/j.ymgmr.2020.100613. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32514400 Free PMC article.

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