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Page 1
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.
Chandrasekaran J, Petit E, Park YW, du Montcel ST, Joers JM, Deelchand DK, Považan M, Banan G, Valabregue R, Ehses P, Faber J, Coupé P, Onyike CU, Barker PB, Schmahmann JD, Ratai EM, Subramony SH, Mareci TH, Bushara KO, Paulson H, Durr A, Klockgether T, Ashizawa T, Lenglet C, Öz G; READISCA Consortium. Chandrasekaran J, et al. Ann Neurol. 2023 Apr;93(4):686-701. doi: 10.1002/ana.26573. Epub 2022 Dec 29. Ann Neurol. 2023. PMID: 36511514 Free PMC article.
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. 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.
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. 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.
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.
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. 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.
Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.
Burt AL, L'Italien G, Perlman SL, Rosenthal LS, Kuo SH, Ashizawa T, Zesiewicz T, Dietiker C, Opal P, Duquette A, Wilmot GR, Shakkottai VG, Gomez CM, Srinivasan SR, Paulson H, Geschwind MD, Worley S, Onyike CU, Billnitzer A, Ferng A, Matulis K, Davis MY, Subramony SH, Gupta A, Stephen CD, Schmahmann JD. Burt AL, et al. Among authors: perlman sl. Mov Disord. 2025 May;40(5):917-927. doi: 10.1002/mds.30158. Epub 2025 Mar 4. Mov Disord. 2025. PMID: 40035484
Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia.
Koenig MK, Leuzzi V, Gouider R, Yiu EM, Pietrucha B, Stray-Pedersen A, Perlman SL, Wu S, Burgers T, Borgohain R, Kandadai RM, Meyts I, Bucciol G, Udwadia-Hegde A, Yadav R, Roberts D, Dane A, Roden M, Thye D, Horn B, Lederman HM, Whitehouse WP. Koenig MK, et al. Among authors: perlman sl. Front Neurol. 2025 Jan 23;15:1526914. doi: 10.3389/fneur.2024.1526914. eCollection 2024. Front Neurol. 2025. PMID: 39917433 Free PMC article.
82 results