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Biomedical Reports|September 20, 2024
Human TDP43 is required for ALS‑related annexin A11 toxicity in <i>Drosophila</i>Jodi Barnard, Rachel Hunt, Mert Yucel, et al.
British Journal of Haematology|November 28, 2008
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindredsBradley N Smith, Phil J Ancliff, Arnold Pizzey, et al.
Neurobiology of Aging|July 14, 2012
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsJack W Miller, Bradley N Smith, Simon D Topp, et al.
Scientific Reports|July 1, 2021
Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutationsShaakir Salam, Sara Tacconelli, Bradley N Smith, et al.
Acta Neuropathologica|October 12, 2012
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variantAndrew King, Safa Al-Sarraj, Claire Troakes, et al.
Cell Death & Disease|March 15, 2026
Human FUS is toxic via association with RNA polymerase II in DrosophilaThomas G Moens, Luca Biasetti, Wendy Scheveneels, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|June 6, 2014
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) geneLouisa Kent, Thomas N Vizard, Bradley N Smith, et al.
Neurobiology of Aging|August 16, 2012
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsLauren Johnson, Jack W Miller, Athina Soragia Gkazi, et al.
Brain : a Journal of Neurology|October 13, 2019
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathyHan-Jou Chen, Simon D Topp, Ho Sang Hui, et al.
Brain : a Journal of Neurology|July 11, 2024
Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissuesValentina Marchica, Luca Biasetti, Jodi Barnard, et al.
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