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Page 1
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: boluda s. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. Online ahead of print. Brain. 2024. PMID: 39378335
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: boluda s. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.
Boetto J, Plu I, Ducos Y, Blouin A, Teranishi Y; Brainbank Neuro-CEB Neuropathology Network; Bizzotto S, Kalamarides M, Peyre M. Boetto J, et al. Acta Neuropathol. 2023 Dec;146(6):833-835. doi: 10.1007/s00401-023-02635-4. Epub 2023 Sep 26. Acta Neuropathol. 2023. PMID: 37750907 No abstract available.
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M. Lopez-Herdoiza MB, et al. Among authors: boluda s. Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37138765 Free PMC article.
Golgi localization of SARS-CoV-2 spike protein and interaction with furin in cerebral COVID-19 microangiopathy: a clue to the central nervous system involvement?
Boluda S, Mokhtari K, Mégarbane B, Annane D, Mathon B, Cao A, Adam C, Androuin A, Bielle F, Brochier G, Charlotte F, Chougar L, El Hachimi KH, Eloit M, Haïk S, Hervé D, Kasri A, Leducq V, Lehéricy S, Levavasseur E, Lobsiger C, Lorin de La Grandmaison G, Malet I, Malissin I, Marot S, Marty S, Pérot P, Plu I, Prigent A, Stimmer L, Potier MC, Marcelin AG, Delatour B, Duyckaerts C, Seilhean D. Boluda S, et al. Free Neuropathol. 2023 Feb 10;4:4-1. doi: 10.17879/freeneuropathology-2023-4584. eCollection 2023 Jan. Free Neuropathol. 2023. PMID: 37283933 Free PMC article.
Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome.
Kasri A, Camporesi E, Gkanatsiou E, Boluda S, Brinkmalm G, Stimmer L, Ge J, Hanrieder J, Villain N, Duyckaerts C, Vermeiren Y, Pape SE, Nicolas G, Laquerrière A, De Deyn PP, Wallon D, Blennow K, Strydom A, Zetterberg H, Potier MC. Kasri A, et al. Among authors: boluda s. Acta Neuropathol. 2024 Jul 18;148(1):8. doi: 10.1007/s00401-024-02756-4. Acta Neuropathol. 2024. PMID: 39026031 Free PMC article.
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: boluda s. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312. PMID: 39006414 Free PMC article. Updated. Preprint.
66 results