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Page 1
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Sapaly D, Cheguillaume F, Weill L, Clerc Z, Biondi O, Bendris S, Buon C, Slika R, Piller E, Sundaram VK, da Silva Ramos A, Amador MDM, Lenglet T, Debs R, Le Forestier N, Pradat PF, Salachas F, Lacomblez L, Hesters A, Borderie D, Devos D, Desnuelle C, Rolland AS, Periou B, Vasseur S, Chapart M, Le Ber I, Fauret-Amsellem AL, Millecamps S, Maisonobe T, Leonard-Louis S, Behin A, Authier FJ, Evangelista T, Charbonnier F, Bruneteau G; PULSE study group. Sapaly D, et al. Among authors: fauret amsellem al. Brain. 2024 Aug 28:awae270. doi: 10.1093/brain/awae270. Online ahead of print. Brain. 2024. PMID: 39197036
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
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: fauret amsellem al. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem AL, Gareau T, Guegan J, Anheim M, Mariani LL, Le Forestier N, Tranchant C, Corvol JC, Lesage S, Brice A; French Parkinson's disease genetics study group (PDG). Casse F, et al. Among authors: fauret amsellem al. Mov Disord Clin Pract. 2023 Mar 7;10(4):664-669. doi: 10.1002/mdc3.13699. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070044 Free PMC article.
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Tezenas du Montcel S, et al. Among authors: fauret amsellem al. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16. Neurology. 2023. PMID: 36797067 Free PMC article.
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
Méreaux JL, Davoine CS, Coutelier M, Guillot-Noël L, Castrioto A, Charles P, Coarelli G, Ewenczyk C, Klebe S, Heinzmann A, Méneret A, Fauret-Amsellem AL, de Sainte Agathe JM, Brice A, Durr A. Méreaux JL, et al. Among authors: fauret amsellem al. J Med Genet. 2023 Jul;60(7):717-721. doi: 10.1136/jmg-2022-108924. Epub 2023 Jan 4. J Med Genet. 2023. PMID: 36599645
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.
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Passone CGB, Vermillac G, Staels W, Besancon A, Kariyawasam D, Godot C, Lambe C, Talbotec C, Girard M, Chardot C, Berteloot L, Hachem T, Lapillonne A, Poidvin A, Storey C, Neve M, Stan C, Dugelay E, Fauret-Amsellem AL, Capri Y, Cavé H, Ybarra M, Chandra V, Scharfmann R, Bismuth E, Polak M, Carel JC, Pigneur B, Beltrand J. Passone CGB, et al. Among authors: fauret amsellem al. Front Endocrinol (Lausanne). 2022 Jun 22;13:802351. doi: 10.3389/fendo.2022.802351. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35813646 Free PMC article.
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M, Lebenthal Y, de Vries L, Yackobovitch-Gavan M, Averbuch NS, Fauret-Amsellem AL, Cavé H, Beltrand J, Polak M, Phillip M, Nimri R. Mouler M, et al. Among authors: fauret amsellem al. Pediatr Diabetes. 2022 Feb;23(1):45-54. doi: 10.1111/pedi.13295. Epub 2021 Dec 6. Pediatr Diabetes. 2022. PMID: 34837310
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: fauret amsellem al. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574
17 results