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The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.
Lavorgna L, Maida E, Reinhard C, Cras P, Reetz K, Molnar MJ, Nonnekes J, Medijainen K, Summa S, Diserens K, Petrarca M, Albanese A, Leocani L, Delussi M, Vinciguerra C, Pagliano E, Kubica J, Lallemant P, Wenning G, Sival D, Groleger Srsen K, Bertini ES, Lopane G, Boesch S, Bonavita S, Crosiers D, Muresanu D, Timmann D, Federico A; European Reference Network on Rare Neurological Disease (ERN-RND) Telerehabilitation Working Group. Lavorgna L, et al. Among authors: lallemant p. Telemed J E Health. 2024 Sep;30(9):2419-2430. doi: 10.1089/tmj.2023.0702. Epub 2024 Jul 1. Telemed J E Health. 2024. PMID: 38946606 Review.
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G, Zaki MS, Issa M, Keren B, Guillaud-Bataille M, Renaldo F, Isapof A, Lallemant P, Stevanin G, Guillot-Noel L, Courtin T, Buratti J, Freihuber C, Gleeson JG, Howarth R, Durr A, de Sainte Agathe JM, Mignot C. Cogan G, et al. Among authors: lallemant p. Hum Genet. 2024 Nov;143(11):1353-1362. doi: 10.1007/s00439-024-02702-0. Epub 2024 Oct 4. Hum Genet. 2024. PMID: 39367212
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia.
Rezende TJR, Petit E, Park YW, Tezenas du Montcel S, Joers JM, DuBois JM, Moore Arnold H, Povazan 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, Klockgether T, Durr A, Ashizawa T, Lenglet C, Öz G; READISCA Consortium. Rezende TJR, et al. Mov Disord. 2024 Oct;39(10):1856-1867. doi: 10.1002/mds.29934. Epub 2024 Jul 26. Mov Disord. 2024. PMID: 39056163
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
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.
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