Publications

  • Prabhu AV, Kang I, De Pace R, Wassif CA, Fujiwara H, Kell P, Jiang X, Ory DS, Bonifacino JS, Ward ME, Porter FD.  A human iPSC-derived inducible model of Niemann-Pick disease, type C1. BMC Biol. 2021 Oct 1;19(1):218. doi: 10.1186/s12915-021-01133-x.
  • Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F. X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.  Genet Med. 2021 Oct;23(10):1864-1872. doi: 10.1038/s41436-021-01224-8. Epub 2021 May 28.
  • Hildenbrand H, Wickstrom J, Parks R, Zampieri C, Nguyen TT, Thurm A, Jenkins K, Alter KE, Matsubara J, Hammond D, Soldatos A, Porter FD, Dang Do An.  Characterizing upper limb function in the context of activities of daily living in CLN3 disease.  Am J Med Genet A. 2021 May;185(5):1399-1413. doi: 10.1002/ajmg.a.62114. Epub 2021 Feb 8.
  • Abdennadher M, Inati S, Soldatos A, Norato G, Baker EH, Thurm A, Bartolini L, Masvekar R, Theodore W, Bielekova B, Porter FD, Dang Do AN.  Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.  J Inherit Metab Dis. 2021 Jul;44(4):1013-1020. doi: 10.1002/jimd.12366. Epub 2021 Feb 15.
  • Dang Do AN, Sinaii N, Masvekar RR, Baker EH, Thurm AE, Soldatos AG, Bianconi SE, Bielekova B, Porter FD.  Neurofilament light chain levels correlate with clinical measures in CLN3 disease.  Genet Med. 2021 Apr;23(4):751-757. doi: 10.1038/s41436-020-01035-3. Epub 2020 Nov 26.
  • Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Auditory phenotype of Smith-Lemli-Opitz syndrome.  Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2.
  • Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1. JAMA Neurol. 2020 Dec 1;77(12):1564-1568. doi: 10.1001/jamaneurol.2020.3241.
  • Dang Do AN, Baker EH, Warren KE, Bianconi SE, Porter FD. Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2018 Feb;176(2):386-390. doi: 10.1002/ajmg.a.38563. Epub 2017 Dec 11.
  • Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.  Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.
  • Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.
  • Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1 predicted by analysis of massively parallel sequencing data sets. Genet Med 2016; 18(1):41-8.

A listing of all Dr. Porter's publications is available on PubMed.

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