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Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Bluett B, Pantelyat AY, Litvan I, Ali F, Apetauerova D, Bega D, Bloom L, Bower J, Boxer AL, Dale ML, Dhall R, Duquette A, Fernandez HH, Fleisher JE, Grossman M, Howell M, Kerwin DR, Leegwater-Kim J, Lepage C, Ljubenkov PA, Mancini M, McFarland NR, Moretti P, Myrick E, Patel P, Plummer LS, Rodriguez-Porcel F, Rojas J, Sidiropoulos C, Sklerov M, Sokol LL, Tuite PJ, VandeVrede L, Wilhelm J, Wills AA, Xie T, Golbe LI. Bluett B, et al. Among authors: moretti p. Front Neurol. 2021 Jul 1;12:694872. doi: 10.3389/fneur.2021.694872. eCollection 2021. Front Neurol. 2021. PMID: 34276544 Free PMC article. Review.
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.
Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J. Brewer GJ, et al. Among authors: moretti p. Arch Neurol. 2006 Apr;63(4):521-7. doi: 10.1001/archneur.63.4.521. Arch Neurol. 2006. PMID: 16606763 Clinical Trial.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: moretti p. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.
482 results