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Page 1
Balance impairment in individuals with Wolfram syndrome.
Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group. Pickett KA, et al. Among authors: paciorkowski ar. Gait Posture. 2012 Jul;36(3):619-24. doi: 10.1016/j.gaitpost.2012.06.008. Epub 2012 Jul 6. Gait Posture. 2012. PMID: 22771154 Free PMC article.
Reliability and validity of the Wolfram Unified Rating Scale (WURS).
Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T; Washington University Wolfram Study Group. Nguyen C, et al. Among authors: paciorkowski ar. Orphanet J Rare Dis. 2012 Nov 14;7:89. doi: 10.1186/1750-1172-7-89. Orphanet J Rare Dis. 2012. PMID: 23148655 Free PMC article.
Early brain vulnerability in Wolfram syndrome.
Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA; Washington University Wolfram Study Group. Hershey T, et al. Among authors: paciorkowski ar. PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11. PLoS One. 2012. PMID: 22792385 Free PMC article.
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group. Marshall BA, et al. Among authors: paciorkowski ar. Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64. Orphanet J Rare Dis. 2013. PMID: 23981289 Free PMC article.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: paciorkowski ar. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: paciorkowski ar. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A. Olson HE, et al. Among authors: paciorkowski ar. Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14. Ann Neurol. 2017. PMID: 28133863 Free PMC article.
69 results