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

Por Mizielinska, Sarah, Isaacs, Adrian M.
Publicado em 2014

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis

Por Fratta, Pietro, Isaacs, Adrian M
Publicado no Brain (2018)

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

Por Balendra, Rubika, Moens, Thomas G, Isaacs, Adrian M
Publicado no EMBO Mol Med (2017)

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander

Por Banks, Gareth T., Kuta, Anna, Isaacs, Adrian M., Fisher, Elizabeth M. C.
Publicado em 2008

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

Por Humphrey, Jack, Emmett, Warren, Fratta, Pietro, Isaacs, Adrian M., Plagnol, Vincent
Publicado no BMC Med Genomics (2017)

Acceleration of Amyloid β-Peptide Aggregation by Physiological Concentrations of Calcium

Por Isaacs, Adrian M., Senn, David B., Yuan, Menglan, Shine, James P., Yankner, Bruce A.
Publicado em 2006

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

Por Fratta, Pietro, Mizielinska, Sarah, Nicoll, Andrew J., Zloh, Mire, Fisher, Elizabeth M. C., Parkinson, Gary, Isaacs, Adrian M.
Publicado em 2012

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

Por Mizielinska, Sarah, Lashley, Tammaryn, Norona, Frances E., Clayton, Emma L., Ridler, Charlotte E., Fratta, Pietro, Isaacs, Adrian M.
Publicado em 2013

A novel exon 2 I27V valosin-containing protein variant is associated with dissimilar clinical syndromes

Por Rohrer, Jonathan D, Warren, Jason D, Reiman, David, Uphill, James, Beck, Jonathan, Collinge, John, Rossor, Martin N, Isaacs, Adrian M, Mead, Simon
Publicado no J Neurol (2011)

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

Por Mizielinska, Sarah, Ridler, Charlotte E., Balendra, Rubika, Thoeng, Annora, Woodling, Nathan S., Grässer, Friedrich A., Plagnol, Vincent, Lashley, Tammaryn, Partridge, Linda, Isaacs, Adrian M.
Publicado no Acta Neuropathol Commun (2017)

The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease

Por Tosh, Justin L., Rickman, Matthew, Rhymes, Ellie, Norona, Frances E., Clayton, Emma, Mucke, Lennart, Isaacs, Adrian M., Fisher, Elizabeth M.C., Wiseman, Frances K.
Publicado no Wellcome Open Res (2018)

Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B

Por Chassefeyre, Romain, Martínez-Hernández, José, Bertaso, Federica, Bouquier, Nathalie, Blot, Béatrice, Laporte, Marine, Fraboulet, Sandrine, Couté, Yohann, Devoy, Anny, Isaacs, Adrian M., Pernet-Gallay, Karin, Sadoul, Rémy, Fagni, Laurent, Goldberg, Yves
Publicado no J Neurosci (2015)

Conformation Determines the Seeding Potencies of Native and Recombinant Tau Aggregates

Por Falcon, Benjamin, Cavallini, Annalisa, Angers, Rachel, Glover, Sarah, Murray, Tracey K., Barnham, Luanda, Jackson, Samuel, O'Neill, Michael J., Isaacs, Adrian M., Hutton, Michael L., Szekeres, Philip G., Goedert, Michel, Bose, Suchira
Publicado no J Biol Chem (2015)

Adult Polyglucosan Body Disease with GBE1 Haploinsufficiency and Concomitant Frontotemporal Lobar Degeneration

Por Bit-Ivan, Esther N., Lee, Kyung-Hwa, Gitelman, Darren, Weintraub, Sandra, Mesulam, Marsel, Rademakers, Rosa, Isaacs, Adrian M., Hatanpaa, Kimmo J., White, Charles L., Mao, Qinwen, Akman, Orhan, DiMauro, Salvatore, Bigio, Eileen H.
Publicado em 2014

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

Por 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.
Publicado no Acta Neuropathol (2015)

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

Por Iyer, Janani, Wang, Qingyu, Le, Thanh, Pizzo, Lucilla, Grönke, Sebastian, Ambegaokar, Surendra S., Imai, Yuzuru, Srivastava, Ashutosh, Troisí, Beatriz Llamusí, Mardon, Graeme, Artero, Ruben, Jackson, George R., Isaacs, Adrian M., Partridge, Linda, Lu, Bingwei, Kumar, Justin P., Girirajan, Santhosh
Publicado no G3 (Bethesda) (2016)

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Por Urwin, Hazel, Authier, Astrid, Nielsen, Jorgen E., Metcalf, Daniel, Powell, Caroline, Froud, Kristina, Malcolm, Denise S., Holm, Ida, Johannsen, Peter, Brown, Jeremy, Fisher, Elizabeth M.C., van der Zee, Julie, Bruyland, Marc, Van Broeckhoven, Christine, Collinge, John, Brandner, Sebastian, Futter, Clare, Isaacs, Adrian M.
Publicado em 2010

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Por 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
Publicado em 2013

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

Por 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.
Publicado no Hum Mol Genet (2017)

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

Por Devoy, Anny, Kalmar, Bernadett, Stewart, Michelle, Park, Heesoon, Burke, Beverley, Noy, Suzanna J, Redhead, Yushi, Humphrey, Jack, Lo, Kitty, Jaeger, Julian, Mejia Maza, Alan, Sivakumar, Prasanth, Bertolin, Cinzia, Soraru, Gianni, Plagnol, Vincent, Greensmith, Linda, Acevedo Arozena, Abraham, Isaacs, Adrian M, Davies, Benjamin, Fratta, Pietro, Fisher, Elizabeth M C
Publicado no Brain (2017)