Pesquisa | BVS Violência e Saúde

1.

Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.

Clayton, Emma L; Huggon, Laura; Cousin, Michael A; Mizielinska, Sarah.

Brain ; 2024 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-38451707

2.

G₂C₄ targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.

Rothstein, Jeffrey D; Baskerville, Victoria; Rapuri, Sampath; Mehlhop, Emma; Jafar-Nejad, Paymaan; Rigo, Frank; Bennett, Frank; Mizielinska, Sarah; Isaacs, Adrian; Coyne, Alyssa N.

Acta Neuropathol ; 147(1): 1, 2023 11 29.

Artigo em Inglês | MEDLINE | ID: mdl-38019311

3.

Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.

Clayton, Emma L; Mancuso, Renzo; Nielsen, Troels Tolstrup; Mizielinska, Sarah; Holmes, Holly; Powell, Nicholas; Norona, Frances; Larsen, Jytte Overgaard; Milioto, Carmelo; Wilson, Katherine M; Lythgoe, Mark F; Ourselin, Sebastian; Nielsen, Jörgen E; Johannsen, Peter; Holm, Ida; Collinge, John; Oliver, Peter L; Gomez-Nicola, Diego; Isaacs, Adrian M.

Hum Mol Genet ; 26(5): 873-887, 2017 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-28093491

4.

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.

Moens, Thomas G; Mizielinska, Sarah; Niccoli, Teresa; Mitchell, Jamie S; Thoeng, Annora; Ridler, Charlotte E; Grönke, Sebastian; Esser, Jacqueline; Heslegrave, Amanda; Zetterberg, Henrik; Partridge, Linda; Isaacs, Adrian M.

Acta Neuropathol ; 135(3): 445-457, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29380049

5.

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.

Swinnen, Bart; Bento-Abreu, Andre; Gendron, Tania F; Boeynaems, Steven; Bogaert, Elke; Nuyts, Rik; Timmers, Mieke; Scheveneels, Wendy; Hersmus, Nicole; Wang, Jiou; Mizielinska, Sarah; Isaacs, Adrian M; Petrucelli, Leonard; Lemmens, Robin; Van Damme, Philip; Van Den Bosch, Ludo; Robberecht, Wim.

Acta Neuropathol ; 135(3): 427-443, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29302778

6.

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.

Clayton, Emma L; Mizielinska, Sarah; Edgar, James R; Nielsen, Troels Tolstrup; Marshall, Sarah; Norona, Frances E; Robbins, Miranda; Damirji, Hana; Holm, Ida E; Johannsen, Peter; Nielsen, Jørgen E; Asante, Emmanuel A; Collinge, John; Isaacs, Adrian M.

Acta Neuropathol ; 130(4): 511-23, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26358247

7.

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Mizielinska, Sarah; Isaacs, Adrian M.

Curr Opin Neurol ; 27(5): 515-23, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25188012

8.

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

Mizielinska, Sarah; Lashley, Tammaryn; Norona, Frances E; Clayton, Emma L; Ridler, Charlotte E; Fratta, Pietro; Isaacs, Adrian M.

Acta Neuropathol ; 126(6): 845-57, 2013 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24170096

9.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Fratta, Pietro; Poulter, Mark; Lashley, Tammaryn; Rohrer, Jonathan D; Polke, James M; Beck, Jon; Ryan, Natalie; Hensman, Davina; Mizielinska, Sarah; Waite, Adrian J; Lai, Mang-Ching; Gendron, Tania F; Petrucelli, Leonard; Fisher, Elizabeth M C; Revesz, Tamas; Warren, Jason D; Collinge, John; Isaacs, Adrian M; Mead, Simon.

Acta Neuropathol ; 126(3): 401-9, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23818065

10.

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.

Ghazi-Noori, Shabnam; Froud, Kristina E; Mizielinska, Sarah; Powell, Caroline; Smidak, Michelle; Fernandez de Marco, Mar; O'Malley, Catherine; Farmer, Michael; Parkinson, Nick; Fisher, Elizabeth M C; Asante, Emmanuel A; Brandner, Sebastian; Collinge, John; Isaacs, Adrian M.

Brain ; 135(Pt 3): 819-32, 2012 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-22366797

11.

A cryptic clue to neurodegeneration?

O'Brien, Niamh; Mizielinska, Sarah.

Science ; 379(6637): 1090-1091, 2023 03 17.

Artigo em Inglês | MEDLINE | ID: mdl-36927030

12.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.

Nielsen, Troels Tolstrup; Mizielinska, Sarah; Hasholt, Lis; Isaacs, Adrian M; Nielsen, Jørgen E.

J Gene Med ; 14(8): 521-9, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22786763

13.

Altered Phase Separation and Cellular Impact in C9orf72-Linked ALS/FTD.

Solomon, Daniel A; Smikle, Rebekah; Reid, Matthew J; Mizielinska, Sarah.

Front Cell Neurosci ; 15: 664151, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33967699

14.

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

Gami, Priya; Murray, Christina; Schottlaender, Lucia; Bettencourt, Conceição; De Pablo Fernandez, Eduardo; Mudanohwo, Ese; Mizielinska, Sarah; Polke, James M; Holton, Janice L; Isaacs, Adrian M; Houlden, Henry; Revesz, Tamas; Lashley, Tammaryn.

Acta Neuropathol ; 130(4): 599-601, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26347457

15.

Rapid dendritic and axonal responses to neuronal insults.

Mizielinska, Sarah M; Greenwood, Sam M; Tummala, Hemanth; Connolly, Christopher N.

Biochem Soc Trans ; 37(Pt 6): 1389-93, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19909282

16.

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.

Mizielinska, Sarah; Ridler, Charlotte E; Balendra, Rubika; Thoeng, Annora; Woodling, Nathan S; Grässer, Friedrich A; Plagnol, Vincent; Lashley, Tammaryn; Partridge, Linda; Isaacs, Adrian M.

Acta Neuropathol Commun ; 5(1): 29, 2017 04 18.

Artigo em Inglês | MEDLINE | ID: mdl-28420437

17.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Rohrer, Jonathan D; Isaacs, Adrian M; Mizielinska, Sarah; Mead, Simon; Lashley, Tammaryn; Wray, Selina; Sidle, Katie; Fratta, Pietro; Orrell, Richard W; Hardy, John; Holton, Janice; Revesz, Tamas; Rossor, Martin N; Warren, Jason D.

Lancet Neurol ; 14(3): 291-301, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25638642

18.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.

Fratta, Pietro; Polke, James M; Newcombe, Jia; Mizielinska, Sarah; Lashley, Tammaryn; Poulter, Mark; Beck, Jon; Preza, Elisavet; Devoy, Anny; Sidle, Katie; Howard, Robin; Malaspina, Andrea; Orrell, Richard W; Clarke, Jan; Lu, Ching-Hua; Mok, Kin; Collins, Toby; Shoaii, Maryam; Nanji, Tina; Wray, Selina; Adamson, Gary; Pittman, Alan; Renton, Alan E; Traynor, Bryan J; Sweeney, Mary G; Revesz, Tamas; Houlden, Henry; Mead, Simon; Isaacs, Adrian M; Fisher, Elizabeth M C.

Neurobiol Aging ; 36(1): 546.e1-7, 2015 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-25179228

19.

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.

Mizielinska, Sarah; Grönke, Sebastian; Niccoli, Teresa; Ridler, Charlotte E; Clayton, Emma L; Devoy, Anny; Moens, Thomas; Norona, Frances E; Woollacott, Ione O C; Pietrzyk, Julian; Cleverley, Karen; Nicoll, Andrew J; Pickering-Brown, Stuart; Dols, Jacqueline; Cabecinha, Melissa; Hendrich, Oliver; Fratta, Pietro; Fisher, Elizabeth M C; Partridge, Linda; Isaacs, Adrian M.

Science ; 345(6201): 1192-1194, 2014 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-25103406

20.

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.

Fratta, Pietro; Mizielinska, Sarah; Nicoll, Andrew J; Zloh, Mire; Fisher, Elizabeth M C; Parkinson, Gary; Isaacs, Adrian M.

Sci Rep ; 2: 1016, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-23264878

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