Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

by Boczonadi, Veronika, King, Martin, Smith, Anthony Colin, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G, Pyle, Angela, Griffin, Helen, Taylor, Robert W, Chinnery, Patrick Francis, Robinson, Alan Jonathan, Kunji, Edmund Richard, Horvath, Rita
Published 2018

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

by Boczonadi, Veronika, Müller, Juliane S, Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J, Chinnery, Patrick F, Edvardson, Shimon, Horvath, Rita
Published 2019

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

by Boczonadi, Veronika, King, Martin S, Smith, Anthony C, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G, Pyle, Angela, Griffin, Helen, Taylor, Robert W, Chinnery, Patrick F, Robinson, Alan J, Kunji, Edmund RS, Horvath, Rita
Published 2018

Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts.

by Hokkanen, Suvi RK, Kero, Mia, Kaivola, Karri, Hunter, Sally, Keage, Hannah AD, Kiviharju, Anna, Raunio, Anna, Tienari, Pentti J, Paetau, Anders, Matthews, Fiona E, Fleming, Jane, Graff, Caroline, Polvikoski, Tuomo M, Myllykangas, Liisa, Brayne, Carol, EClipSE Collaboration
Published 2019

Re-examining tau-immunoreactive pathology in the population: granulovacuolar degeneration and neurofibrillary tangles.

by Hunter, Sally, Minett, Thais, Polvikoski, Tuomo, Mukaetova-Ladinska, Elizabeta, Brayne, Carol, Cambridge City over-75s Cohort Collaboration
Published 2015

Neuropathological consensus criteria for the evaluation of Lewy pathology in post-mortem brains: a multi-centre study.

by Attems, Johannes, Toledo, Jon B, Walker, Lauren, Gelpi, Ellen, Gentleman, Steve, Halliday, Glenda, Hortobagyi, Tibor, Jellinger, Kurt, Kovacs, Gabor G, Lee, Edward B, Love, Seth, McAleese, Kirsty E, Nelson, Peter T, Neumann, Manuela, Parkkinen, Laura, Polvikoski, Tuomo, Sikorska, Beata, Smith, Colin, Grinberg, Lea Tenenholz, Thal, Dietmar R, Trojanowski, John Q, McKeith, Ian G
Published 2021

TDP-43 Related Neuropathologies and Phosphorylation State: Associations with Age and Clinical Dementia in the Cambridge City over-75s Cohort.

by Hunter, Sally, Hokkanen, Suvi RK, Keage, Hannah AD, Fleming, Jane, Minett, Thais, Polvikoski, Tuomo, Allinson, Kieren, Brayne, Carol, Cambridge City over 75s Cohort collaboration
Published 2020