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Reliability and validity of the Huntington's Disease Everyday Functioning (Hi-DEF): A patient-reported measure of cognitive capacity on daily functioning in Huntington's disease.
Petrillo J, Sawant R, Rogers R, Cleanthous S, Cano S, Kumar R, Klapper J, Sierra LA, Bang J, Anderson KE, Hall DA, Perlman S, Moore H, Bega D, Johannesen J, Elliott E. Petrillo J, et al. Among authors: perlman s. J Huntingtons Dis. 2025 Nov;14(4):369-381. doi: 10.1177/18796397251358375. Epub 2025 Jul 22. J Huntingtons Dis. 2025. PMID: 40692327 Free PMC article.
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.
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. Park J, et al. Among authors: perlman s. J Neurol. 2024 Oct;271(10):6888-6902. doi: 10.1007/s00415-024-12664-y. Epub 2024 Sep 3. J Neurol. 2024. PMID: 39225743 Free PMC article.
Initiation of a coronavirus vaccine library.
Kovacs D, Brar G, Anthony SJ, Wang LF, Holmes EC, Saif LJ, Gerdts V, Poon L, Perlman S, Vandeputte J, Drosten C, Wells HL, Castillo-Olivares J, Brasel T, Endy T, Steff AM, Thiry G, Cohen N. Kovacs D, et al. Among authors: perlman s. Vaccine. 2025 Dec 20;72:128140. doi: 10.1016/j.vaccine.2025.128140. Online ahead of print. Vaccine. 2025. PMID: 41422789
Digital Gait Measures Discriminate People with Friedreich's Ataxia from Healthy Controls.
Casey HL, Shah VV, Muzyka D, McNames J, El-Gohary M, Sowalsky K, Safarpour D, Carlson-Kuhta P, Schmahmann JD, Rosenthal LS, Perlman S, Rummey C, Horak FB, Gomez CM. Casey HL, et al. Among authors: perlman s. Mov Disord Clin Pract. 2025 Dec 17. doi: 10.1002/mdc3.70465. Online ahead of print. Mov Disord Clin Pract. 2025. PMID: 41408995
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Furuta Y, Ezell KM, Hamid R, Cogan JD, Cassini TA, Rives L, McMinn A, Shah S, Peltier AC, Layfield S, Fletcher RS, Tedder ML, Louie RJ, Lee JA, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan JH, Moth CW, Meiler J, Vawter-Lee M, Mendoza-Sengco PM, Holzen JB, Pruthi S, Phillips JA 3rd, Tinker RJ; Undiagnosed Diseases Network. Furuta Y, et al. Mol Genet Genomic Med. 2025 Dec;13(12):e70165. doi: 10.1002/mgg3.70165. Mol Genet Genomic Med. 2025. PMID: 41407309 Free PMC article.
1,343 results