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Page 1
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: magne fo. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.
Lanore A, Tesson C, Basset A, Lejeune FX, Cogan G, Mangone G, Sambin S, Bertille N, Anheim M, Arnulf I, Ansquer S, Brandel JP, Brefel-Courbon C, Defebvre L, Drapier S, Eusebsio A, Fabbri M, Giordana C, Hainque E, Lehericy S, Marques A, Moreau C, Moro E, Ory F, Rolland AS, Thobois S, Vidailhet M, Devos D, Mariani LL, Lesage S, Brice A, Corvol JC; Predistim study group; Iceberg study group; NSPark study group. Lanore A, et al. NPJ Parkinsons Dis. 2025 Aug 2;11(1):226. doi: 10.1038/s41531-025-01060-6. NPJ Parkinsons Dis. 2025. PMID: 40753162 Free PMC article.
ON/OFF non-motor evaluation: a new way to evaluate non-motor fluctuations in Parkinson's disease.
Faggianelli F, Witjas T, Azulay JP, Benatru I, Hubsch C, Anheim M, Moreau C, Hainque E, Drapier S, Jarraya B, Laurencin C, Guehl D, Hopes L, Brefel-Courbon C, Tir M, Marques A, Rouaud T, Maltete D, Giordana C, Baumstarck K, Rascol O, Corvol JC, Rolland AS, Devos D, Eusebio A; PREDISTIM study group. Faggianelli F, et al. J Neurol Neurosurg Psychiatry. 2024 Jun 17;95(7):656-662. doi: 10.1136/jnnp-2023-332551. J Neurol Neurosurg Psychiatry. 2024. PMID: 38272656
Leucine-Rich Glioma-Inactivated 1 Encephalitis: Broadening the Sphere.
Rachdi A, Dupouy J, Benaiteau M, Bost C, Moreau MS, Courbon CB, Rascol O, Magne FO. Rachdi A, et al. Among authors: magne fo. Tremor Other Hyperkinet Mov (N Y). 2019 Oct 9;9. doi: 10.7916/tohm.v0.663. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31656690 Free PMC article.
Brain Atrophy Does Not Predict Clinical Progression in Progressive Supranuclear Palsy.
Quattrone A, Franzmeier N, Huppertz HJ, Seneca N, Petzold GC, Spottke A, Levin J, Prudlo J, Düzel E; PASSPORT Study Group, the AL‐108‐231 Investigators, the Arise Investigators, the Tauros MRI Investigators, the DESCRIBE‐PSP group; Höglinger GU. Quattrone A, et al. Mov Disord. 2025 Aug 30. doi: 10.1002/mds.70026. Online ahead of print. Mov Disord. 2025. PMID: 40884249
Limbic Stimulation Drives Mania in STN-DBS in Parkinson Disease: A Prospective Study.
Prange S, Lin Z, Nourredine M, Danaila T, Laurencin C, Lagha-Boukbiza O, Anheim M, Klinger H, Longato N, Phillipps C, Voirin J, Polo G, Simon E, Mertens P, Rolland AS, Devos D, Metereau E, Tranchant C, Thobois S; Predistim study group. Prange S, et al. Ann Neurol. 2022 Sep;92(3):411-417. doi: 10.1002/ana.26434. Epub 2022 Jul 12. Ann Neurol. 2022. PMID: 35703252
Author Correction: Safety and efficacy of anti-tau monoclonal antibody gosuranemab in progressive supranuclear palsy: a phase 2, randomized, placebo-controlled trial.
Dam T, Boxer AL, Golbe LI, Höglinger GU, Morris HR, Litvan I, Lang AE, Corvol JC, Aiba I, Grundman M, Yang L, Tidemann-Miller B, Kupferman J, Harper K, Kamisoglu K, Wald MJ, Graham DL, Gedney L, O'Gorman J, Haeberlein SB; PASSPORT Study Group. Dam T, et al. Nat Med. 2023 Nov;29(11):2955-2956. doi: 10.1038/s41591-022-02076-8. Nat Med. 2023. PMID: 36253611 Free article. No abstract available.