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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. 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.
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. PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11. PLoS One. 2012. PMID: 22792385 Free PMC article.
Selective cognitive and psychiatric manifestations in Wolfram Syndrome.
Bischoff AN, Reiersen AM, Buttlaire A, Al-Lozi A, Doty T, Marshall BA, Hershey T; Washington University Wolfram Syndrome Research Group. Bischoff AN, et al. Orphanet J Rare Dis. 2015 May 30;10:66. doi: 10.1186/s13023-015-0282-1. Orphanet J Rare Dis. 2015. PMID: 26025012 Free PMC article.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: manwaring l. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T; Washington University Wolfram Syndrome Research Study Group. Lugar HM, et al. Sci Rep. 2016 Feb 18;6:21167. doi: 10.1038/srep21167. Sci Rep. 2016. PMID: 26888576 Free PMC article. Clinical Trial.
24 results