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Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T. Martakis K, et al. Among authors: perlman s. Neurology. 2023 Mar 7;100(10):e1072-e1083. doi: 10.1212/WNL.0000000000201660. Epub 2022 Dec 1. Neurology. 2023. PMID: 36456200 Free PMC article. Clinical Trial.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.
Potashman M, Rudell K, Pavisic I, Suminski N, Doma R, Heinrich M, Abetz-Webb L, Beiner MW, Kuo SH, Rosenthal LS, Zesiwicz T, Fife TD, van de Warrenburg BP, Ristori G, Synofzik M, Perlman S, Schmahmann JD, L'Italien G. Potashman M, et al. Among authors: perlman s. Cerebellum. 2024 May 7. doi: 10.1007/s12311-024-01700-2. Online ahead of print. Cerebellum. 2024. PMID: 38713312
Evidence of antigenic drift in the fusion machinery core of SARS-CoV-2 spike.
Tan TJC, Verma AK, Odle A, Lei R, Meyerholz DK, Matreyek KA, Perlman S, Wong LR, Wu NC. Tan TJC, et al. Among authors: perlman s. Proc Natl Acad Sci U S A. 2024 Apr 9;121(15):e2317222121. doi: 10.1073/pnas.2317222121. Epub 2024 Apr 1. Proc Natl Acad Sci U S A. 2024. PMID: 38557175 Free PMC article.
Antibody-independent protection against heterologous SARS-CoV-2 challenge conferred by prior infection or vaccination.
Fumagalli V, Ravà M, Marotta D, Di Lucia P, Bono EB, Giustini L, De Leo F, Casalgrandi M, Monteleone E, Mouro V, Malpighi C, Perucchini C, Grillo M, De Palma S, Donnici L, Marchese S, Conti M, Muramatsu H, Perlman S, Pardi N, Kuka M, De Francesco R, Bianchi ME, Guidotti LG, Iannacone M. Fumagalli V, et al. Among authors: perlman s. Nat Immunol. 2024 Apr;25(4):633-643. doi: 10.1038/s41590-024-01787-z. Epub 2024 Mar 14. Nat Immunol. 2024. PMID: 38486021 Free PMC article.
1,231 results