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Page 1
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.
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.
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.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Among authors: boluda s. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
Reply to: Questioning the cycad theory of Kii ALS-PDC causation.
Menšíková K, Rosales R, Colosimo C, Spencer P, Lannuzel A, Ugawa Y, Sasaki R, Giménez-Roldán S, Matej R, Tuckova L, Hrabos D, Kolarikova K, Vodicka R, Vrtel R, Strnad M, Hlustik P, Otruba P, Prochazka M, Bares M, Boluda S, Buee L, Ransmayr G, Kaňovský P. Menšíková K, et al. Among authors: boluda s. Nat Rev Neurol. 2024 Mar;20(3):195-196. doi: 10.1038/s41582-024-00938-y. Nat Rev Neurol. 2024. PMID: 38336911 No abstract available.
Endemic parkinsonism: clusters, biology and clinical features.
Menšíková K, Steele JC, Rosales R, Colosimo C, Spencer P, Lannuzel A, Ugawa Y, Sasaki R, Giménez-Roldán S, Matej R, Tuckova L, Hrabos D, Kolarikova K, Vodicka R, Vrtel R, Strnad M, Hlustik P, Otruba P, Prochazka M, Bares M, Boluda S, Buee L, Ransmayr G, Kaňovský P. Menšíková K, et al. Among authors: boluda s. Nat Rev Neurol. 2023 Oct;19(10):599-616. doi: 10.1038/s41582-023-00866-3. Epub 2023 Sep 8. Nat Rev Neurol. 2023. PMID: 37684518 Review.
An immune dysfunction score for stratification of patients with acute infection based on whole-blood gene expression.
Cano-Gamez E, Burnham KL, Goh C, Allcock A, Malick ZH, Overend L, Kwok A, Smith DA, Peters-Sengers H, Antcliffe D; GAinS Investigators; McKechnie S, Scicluna BP, van der Poll T, Gordon AC, Hinds CJ, Davenport EE, Knight JC, Webster N, Galley H, Taylor J, Hall S, Addison J, Roughton S, Tennant H, Guleri A, Waddington N, Arawwawala D, Durcan J, Short A, Swan K, Williams S, Smolen S, Mitchell-Inwang C, Gordon T, Errington E, Templeton M, Venatesh P, Ward G, McCauley M, Baudouin S, Higham C, Soar J, Grier S, Hall E, Brett S, Kitson D, Wilson R, Mountford L, Moreno J, Hall P, Hewlett J, McKechnie S, Garrard C, Millo J, Young D, Hutton P, Parsons P, Smiths A, Faras-Arraya R, Soar J, Raymode P, Thompson J, Bowrey S, Kazembe S, Rich N, Andreou P, Hales D, Roberts E, Fletcher S, Rosbergen M, Glister G, Cuesta JM, Bion J, Millar J, Perry EJ, Willis H, Mitchell N, Ruel S, Carrera R, Wilde J, Nilson A, Lees S, Kapila A, Jacques N, Atkinson J, Brown A, Prowse H, Krige A, Bland M, Bullock L, Harrison D, Mills G, Humphreys J, Armitage K, Laha S, Baldwin J, Walsh A, Doherty N, Drage S, Ortiz-Ruiz de Gordoa L, Lowes S, Higham C, Walsh H, Calder V, Swan C, Payne H, Higgins D, Andrews S, Mappleback … See abstract for full author list ➔ Cano-Gamez E, et al. Among authors: boluda s. Sci Transl Med. 2022 Nov 2;14(669):eabq4433. doi: 10.1126/scitranslmed.abq4433. Epub 2022 Nov 2. Sci Transl Med. 2022. PMID: 36322631 Free PMC article.
Relationship between Substantia Nigra Neuromelanin Imaging and Dual Alpha-Synuclein Labeling of Labial Minor in Salivary Glands in Isolated Rapid Eye Movement Sleep Behavior Disorder and Parkinson's Disease.
Mangone G, Houot M, Gaurav R, Boluda S, Pyatigorskaya N, Chalancon A, Seilhean D, Prigent A, Lehéricy S, Arnulf I, Corvol JC, Vidailhet M, Duyckaerts C, Degos B. Mangone G, et al. Among authors: boluda s. Genes (Basel). 2022 Sep 24;13(10):1715. doi: 10.3390/genes13101715. Genes (Basel). 2022. PMID: 36292600 Free PMC article.
60 results