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Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
Ataxias.
Perlman SL. Perlman SL. Clin Geriatr Med. 2006 Nov;22(4):859-77, vii. doi: 10.1016/j.cger.2006.06.011. Clin Geriatr Med. 2006. PMID: 17000340 Review.
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.
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: perlman sl. J Neurol. 2024 Jul;271(7):3743-3753. doi: 10.1007/s00415-024-12475-1. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822840 Free PMC article.
77 results