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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.
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 Jun 1. doi: 10.1007/s00415-024-12475-1. Online ahead of print. J Neurol. 2024. PMID: 38822840
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.
Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD. Selvadurai LP, et al. Among authors: perlman sl. Cerebellum. 2024 Jan 2. doi: 10.1007/s12311-023-01651-0. Online ahead of print. Cerebellum. 2024. PMID: 38165578
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Neves R, De Dios Perez B, Panek R, Jagani S, Wilne S, Bhatt JM, Caputi C, Cirillo E, Coman DJ, Dückers G, Gilbert DL, Kay Koenig M, Mansour L, McDermott E, Pauni M, Pignata C, Perlman SL, Porras O, Betina Porto M, Schon K, Soler-Palacin P, Nick Russo S, Takagi M, Tischkowitz M, Wainwright C, Dandapani M, Glazebrook C, Suri M, Whitehouse WP, Dineen RA. Neves R, et al. Among authors: perlman sl. Cancer Med. 2023 Jul;12(13):14663-14673. doi: 10.1002/cam4.6075. Epub 2023 Jun 2. Cancer Med. 2023. PMID: 37264737 Free PMC article.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
72 results