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Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR. Hodes ME, et al. Among authors: naidu s. Am J Med Genet. 1999 Jan 15;82(2):132-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4. Am J Med Genet. 1999. PMID: 9934976
Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.
Pizzini F, Fatemi AS, Barker PB, Nagae-Poetscher LM, Horská A, Zimmerman AW, Moser HW, Bibat G, Naidu S. Pizzini F, et al. Among authors: naidu s. AJNR Am J Neuroradiol. 2003 Sep;24(8):1683-9. AJNR Am J Neuroradiol. 2003. PMID: 13679292 Free PMC article.
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Srivastava S, et al. Among authors: naidu s. Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
Mutation analysis of the M6b gene in patients with Rett syndrome.
Narayanan V, Olinsky S, Dahle E, Naidu S, Zoghbi HY. Narayanan V, et al. Among authors: naidu s. Am J Med Genet. 1998 Jun 30;78(2):165-8. doi: 10.1002/(sici)1096-8628(19980630)78:2<165::aid-ajmg13>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9674909
849 results