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Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2289, doi. 10.1093/brain/awae074
By:
- Clayton, Emma L;
- Huggon, Laura;
- Cousin, Michael A;
- Mizielinska, Sarah
Publication type:
Article
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.
Published in:
Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0432-x
By:
- Mizielinska, Sarah;
- Ridler, Charlotte E.;
- Balendra, Rubika;
- Thoeng, Annora;
- Woodling, Nathan S.;
- Grässer, Friedrich A.;
- Plagnol, Vincent;
- Lashley, Tammaryn;
- Partridge, Linda;
- Isaacs, Adrian M.
Publication type:
Article
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 819, doi. 10.1093/brain/aws006
By:
- 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.
Publication type:
Article
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 5, p. 873, doi. 10.1093/hmg/ddx003
By:
- 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;
- FReJA;
- Oliver, Peter L.;
- Gomez-Nicola, Diego;
- Isaacs, Adrian M.
Publication type:
Article
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
Published in:
Journal of Gene Medicine, 2012, v. 14, n. 8, p. 521, doi. 10.1002/jgm.2649
By:
- Nielsen, Troels Tolstrup;
- Mizielinska, Sarah;
- Hasholt, Lis;
- Isaacs, Adrian M.;
- Nielsen, Jørgen E.
Publication type:
Article
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.
Published in:
Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02652-3
By:
- Rothstein, Jeffrey D.;
- Baskerville, Victoria;
- Rapuri, Sampath;
- Mehlhop, Emma;
- Jafar-Nejad, Paymaan;
- Rigo, Frank;
- Bennett, Frank;
- Mizielinska, Sarah;
- Isaacs, Adrian;
- Coyne, Alyssa N.
Publication type:
Article
Sense and antisense RNA are not toxic in <italic>Drosophila</italic> models of <italic>C9orf72</italic>-associated ALS/FTD.
Published in:
Acta Neuropathologica, 2018, v. 135, n. 3, p. 445, doi. 10.1007/s00401-017-1798-3
By:
- 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.
Publication type:
Article
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Published in:
Acta Neuropathologica, 2018, v. 135, n. 3, p. 427, doi. 10.1007/s00401-017-1796-5
By:
- 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
Publication type:
Article
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.
Published in:
2015
By:
- Gami, Priya;
- Murray, Christina;
- Holton, Janice;
- Revesz, Tamas;
- Lashley, Tammaryn;
- Schottlaender, Lucia;
- Bettencourt, Conceição;
- Houlden, Henry;
- Pablo Fernandez, Eduardo;
- Mudanohwo, Ese;
- Polke, James;
- Mizielinska, Sarah;
- Isaacs, Adrian
Publication type:
Letter
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Published in:
Acta Neuropathologica, 2015, v. 130, n. 4, p. 511, doi. 10.1007/s00401-015-1475-3
By:
- Holm, Ida;
- Nielsen, Jørgen;
- Collinge, John;
- Clayton, Emma;
- Mizielinska, Sarah;
- Marshall, Sarah;
- Norona, Frances;
- Robbins, Miranda;
- Damirji, Hana;
- Isaacs, Adrian;
- Edgar, James;
- Nielsen, Troels;
- Johannsen, Peter;
- Asante, Emmanuel
Publication type:
Article
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
Published in:
Acta Neuropathologica, 2013, v. 126, n. 6, p. 845, doi. 10.1007/s00401-013-1200-z
By:
- Mizielinska, Sarah;
- Lashley, Tammaryn;
- Norona, Frances E.;
- Clayton, Emma L.;
- Ridler, Charlotte E.;
- Fratta, Pietro;
- Isaacs, Adrian M.
Publication type:
Article
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Published in:
Acta Neuropathologica, 2013, v. 126, n. 3, p. 401, doi. 10.1007/s00401-013-1147-0
By:
- Fratta, Pietro;
- Poulter, Mark;
- Lashley, Tammaryn;
- Rohrer, Jonathan;
- Polke, James;
- Beck, Jon;
- Ryan, Natalie;
- Hensman, Davina;
- Mizielinska, Sarah;
- Waite, Adrian;
- Lai, Mang-Ching;
- Gendron, Tania;
- Petrucelli, Leonard;
- Fisher, Elizabeth;
- Revesz, Tamas;
- Warren, Jason;
- Collinge, John;
- Isaacs, Adrian;
- Mead, Simon
Publication type:
Article
Altered Phase Separation and Cellular Impact in C9orf72 -Linked ALS/FTD.
Published in:
Frontiers in Cellular Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fncel.2021.664151
By:
- Solomon, Daniel A.;
- Smikle, Rebekah;
- Reid, Matthew J.;
- Mizielinska, Sarah
Publication type:
Article

Found: 13

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

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.

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

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

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

G<sub>2</sub>C<sub>4</sub> targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.

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

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

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.

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

<i>C9orf72</i> frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

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