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287 results

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Page 1
White matter abnormalities in 15 subjects with SPG76.
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R. Alkhalifa A, et al. Among authors: stevanin g. J Neurol. 2023 Dec;270(12):5784-5792. doi: 10.1007/s00415-023-11918-5. Epub 2023 Aug 14. J Neurol. 2023. PMID: 37578488
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: stevanin g. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung DC, Pietrancosta N, Badillo EB, Raux B, Tapken D, Zlatanovic A, Doridant A, Pode-Shakked B, Raas-Rothschild A, Elpeleg O, Abu-Libdeh B, Hamed N, Papon MA, Marouillat S, Thépault RA, Stevanin G, Elegheert J, Letellier M, Hollmann M, Lambolez B, Tricoire L, Toutain A, Hepp R, Laumonnier F. Ung DC, et al. Among authors: stevanin g. Mol Psychiatry. 2024 Feb 28. doi: 10.1038/s41380-024-02469-w. Online ahead of print. Mol Psychiatry. 2024. PMID: 38418578
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Heide S, Davoine CS, Cunha P, Scherer-Gagou C, Keren B, Stevanin G, Charles P, Heron D, Brice A, Durr A. Heide S, et al. Among authors: stevanin g. Neurol Genet. 2023 Oct 19;9(6):e200096. doi: 10.1212/NXG.0000000000200096. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235039 Free PMC article.
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: stevanin g. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Martins S, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, Sequeiros J. Martins S, et al. Among authors: stevanin g. Hum Genet. 2023 Dec;142(12):1747-1754. doi: 10.1007/s00439-023-02611-8. Epub 2023 Nov 14. Hum Genet. 2023. PMID: 37957369 Free PMC article.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Angelini C, et al. Among authors: stevanin g. Mov Disord. 2023 Nov;38(11):2103-2115. doi: 10.1002/mds.29576. Epub 2023 Aug 21. Mov Disord. 2023. PMID: 37605305
287 results