Dr. Sims, working at the
> Sims K et al.Neurologic manifestations of Fabry disease: observational data from the International Fabry Registry.Stroke 2009
> Xin W ...Sims KCLN5 mutations are frequent in both juvenile and late-onset, non-Finnish NCL patients.Neurology 2010;74:565-571
> Smith SE...Sims KBNorrie disease: Extraocular clinical manifestations in a large cohort. Amer J Med Genet 2012; 158A:1909-1917
> Brown J...Sims KBSOD1, ANG, TARDBP and FUS mutations in Amyotrophic Lateral Sclerosis (ALS): a United States clinical testing lab experience.J Med Genet 2012;13:217-222
> Staropoli J...Sims KB,Cotman, S.KCTD7 links a novel form of neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system AJMG 2012; 91:202-208
> Staropoli J...Sims KB An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. BMC Med Genet 2012
From Aug. 9 to 11, the MGH hosted the Norrie Disease Association’s second international conference at the Richard B. Simches Research Center.