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179 results

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Page 1
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: salachas f. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, Cazeneuve C, Rinaldi D, Couratier P, Deramecourt V, Sabatelli M, Belliard S, Vercelletto M, Forlani S, Jornea L; French Clinical and Genetic Research Network on FTLD/FTLD-ALS; PREVDEMALS and FTLD-Exome Study Groups; Leguern E, Brice A, Le Ber I. Fournier C, et al. Neurobiol Aging. 2019 Feb;74:234.e1-234.e8. doi: 10.1016/j.neurobiolaging.2018.09.010. Epub 2018 Sep 19. Neurobiol Aging. 2019. PMID: 30337192 Free article.
Neurite density is reduced in the presymptomatic phase of C9orf72 disease.
Wen J, Zhang H, Alexander DC, Durrleman S, Routier A, Rinaldi D, Houot M, Couratier P, Hannequin D, Pasquier F, Zhang J, Colliot O, Le Ber I, Bertrand A; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group. Wen J, et al. J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):387-394. doi: 10.1136/jnnp-2018-318994. Epub 2018 Oct 24. J Neurol Neurosurg Psychiatry. 2019. PMID: 30355607
Cognitive inhibition impairments in presymptomatic C9orf72 carriers.
Montembeault M, Sayah S, Rinaldi D, Le Toullec B, Bertrand A, Funkiewiez A, Saracino D, Camuzat A, Couratier P, Chouly M, Hannequin D, Aubier-Girard C, Pasquier F, Delbeuck X, Colliot O, Batrancourt B, Azuar C, Lévy R, Dubois B, Le Ber I, Migliaccio R; PrevDemAls study group. Montembeault M, et al. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):366-372. doi: 10.1136/jnnp-2019-322242. Epub 2020 Feb 13. J Neurol Neurosurg Psychiatry. 2020. PMID: 32054668
European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD).
Van Damme P, Al-Chalabi A, Andersen PM, Chiò A, Couratier P, De Carvalho M, Hardiman O, Kuźma-Kozakiewicz M, Ludolph A, McDermott CJ, Mora JS, Petri S, Probyn K, Reviers E, Salachas F, Silani V, Tysnes OB, van den Berg LH, Villanueva G, Weber M. Van Damme P, et al. Among authors: salachas f. Eur J Neurol. 2024 Jun;31(6):e16264. doi: 10.1111/ene.16264. Epub 2024 Mar 12. Eur J Neurol. 2024. PMID: 38470068
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Guissart C, et al. Among authors: salachas f. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. doi: 10.1136/jnnp-2023-331753. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041669 No abstract available.
Quantitative brainstem and spinal MRI in amyotrophic lateral sclerosis: implications for predicting noninvasive ventilation needs.
Khamaysa M, Lefort M, Pélégrini-Issac M, Lackmy-Vallée A, Mendili MME, Preuilh A, Devos D, Bruneteau G, Salachas F, Lenglet T, Amador MM, Le Forestier N, Hesters A, Gonzalez J, Rolland AS, Desnuelle C, Chupin M, Querin G, Georges M, Morelot-Panzini C, Marchand-Pauvert V, Pradat PF; Pulse Study Group. Khamaysa M, et al. Among authors: salachas f. J Neurol. 2024 Mar;271(3):1235-1246. doi: 10.1007/s00415-023-12045-x. Epub 2023 Nov 1. J Neurol. 2024. PMID: 37910250
Neurofilament accumulations in amyotrophic lateral sclerosis patients' motor neurons impair axonal initial segment integrity.
Lefebvre-Omar C, Liu E, Dalle C, d'Incamps BL, Bigou S, Daube C, Karpf L, Davenne M, Robil N, Jost Mousseau C, Blanchard S, Tournaire G, Nicaise C, Salachas F, Lacomblez L, Seilhean D, Lobsiger CS, Millecamps S, Boillée S, Bohl D. Lefebvre-Omar C, et al. Among authors: salachas f. Cell Mol Life Sci. 2023 May 15;80(6):150. doi: 10.1007/s00018-023-04797-6. Cell Mol Life Sci. 2023. PMID: 37184603 Free PMC article.
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group. Miller TM, et al. N Engl J Med. 2022 Sep 22;387(12):1099-1110. doi: 10.1056/NEJMoa2204705. N Engl J Med. 2022. PMID: 36129998 Free article. Clinical Trial.
179 results