Cited by

• Strachan's syndrome: variation on a theme.

  Cockerell OC, Ormerod IE. Cockerell OC, et al. J Neurol. 1993 May;240(5):315-8. doi: 10.1007/BF00838170. J Neurol. 1993. PMID: 8326339
• Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).

  Weiller C, Ferbert A. Weiller C, et al. Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246-9. doi: 10.1007/BF02189534. Eur Arch Psychiatry Clin Neurosci. 1991. PMID: 1647219
• Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

  Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Kim HJ, et al. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.
• Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

  Chalmers RM, Riordan-Eva P, Wood NW. Chalmers RM, et al. J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):385-7. doi: 10.1136/jnnp.62.4.385. J Neurol Neurosurg Psychiatry. 1997. PMID: 9120454 Free PMC article.
• Characterizing microRNA editing and mutation sites in Autism Spectrum Disorder.

  Wu X, Yang H, Lin H, Suo A, Wu S, Xie W, Zhou N, Guo S, Ding H, Zhou G, Qiu Z, Shi H, Yang J, Zheng Y. Wu X, et al. Front Mol Neurosci. 2023 Jan 20;15:1105278. doi: 10.3389/fnmol.2022.1105278. eCollection 2022. Front Mol Neurosci. 2023. PMID: 36743290 Free PMC article.