Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress
Kurzawa‐Akanbi, M., Keogh, M., Tsefou, E., Ramsay, L., Johnson, M., Keers, S., WSA Ochieng, L., McNair, A., Singh, P., Khan, A., Pyle, A., Hudson, G., Ince, P. G., Attems, J., Burn, J., Chinnery, P. F., Morris, C. M.
Published in Neuropathology and applied neurobiology (01.02.2021)
Published in Neuropathology and applied neurobiology (01.02.2021)
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Journal Article
Role of the mitochondrial DNA 16184–16193 poly-C tract in type 2 diabetes
Chinnery, PF, Elliott, HR, Patel, S, Lambert, C, Keers, SM, Durham, SE, McCarthy, MI, Hitman, GA, Hattersley, AT, Walker, M
Published in The Lancet (British edition) (05.11.2005)
Published in The Lancet (British edition) (05.11.2005)
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Journal Article
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Aoki, M, Liu, J, Richard, I, Bashir, R, Britton, S, Keers, S M, Oeltjen, J, Brown, H E, Marchand, S, Bourg, N, Beley, C, McKenna-Yasek, D, Arahata, K, Bohlega, S, Cupler, E, Illa, I, Majneh, I, Barohn, R J, Urtizberea, J A, Fardeau, M, Amato, A, Angelini, C, Bushby, K, Beckmann, J S, Brown, Jr, R H
Published in Neurology (24.07.2001)
Published in Neurology (24.07.2001)
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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development
Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Young, Carol, Cullen, Michael J., Walsh, John, Johnson, Margaret A., Bashir, Rumaisa, Britton, Stephen, Keers, Sharon, Argov, Zohar, Mahjneh, Ibrahim, Fougerousse, Françoise, Beckmann, Jacques S., Bushby, Kate M. D.
Published in Human molecular genetics (01.05.1999)
Published in Human molecular genetics (01.05.1999)
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Journal Article
Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation
Craig, K, Elliott, H R, Keers, S M, Lambert, C, Pyle, A, Graves, T D, Woodward, C, Sweeney, M G, Davis, M B, Hanna, M G, Chinnery, P F
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Journal Article
Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)
Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus
Published in Human molecular genetics (01.05.1999)
Published in Human molecular genetics (01.05.1999)
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Journal Article
The role of mitochondrial haplogroups in primary open angle glaucoma
Andrews, R, Ressiniotis, T, Turnbull, D M, Birch, M, Keers, S, Chinnery, P F, Griffiths, P G
Published in British journal of ophthalmology (01.04.2006)
Published in British journal of ophthalmology (01.04.2006)
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Journal Article
Primary open angle glaucoma is associated with a specific p53 gene haplotype
Ressiniotis, T, Griffiths, P G, Birch, M, Keers, S, Chinnery, P F
Published in Journal of medical genetics (01.04.2004)
Published in Journal of medical genetics (01.04.2004)
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Journal Article
No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia
Keers, S M, Gibson, A M, Turnbull, D M, Chinnery, P F
Published in Journal of medical genetics (01.12.2004)
Published in Journal of medical genetics (01.12.2004)
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Journal Article
Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p
Bashir, Rumaisa, Keers, Sharon, Strachan, Tom, Passos-Bueno, Rita, Zatz, Mayana, Weissenbach, Jean, Le Paslier, Denis, Meisler, Miriam, Bushby, Kate
Published in Genomics (San Diego, Calif.) (01.04.1996)
Published in Genomics (San Diego, Calif.) (01.04.1996)
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Psychological distress and trauma in doctors providing frontline care during the COVID-19 pandemic in the United Kingdom and Ireland: a prospective longitudinal survey cohort study
Roberts, Tom, Daniels, Jo, Hulme, William, Hirst, Robert, Horner, Daniel, Lyttle, Mark David, Samuel, Katie, Graham, Blair, Reynard, Charles, Barrett, Michael, Foley, James, Cronin, John, Umana, Etimbuk, Vinagre, Joao, Carlton, Edward
Published in BMJ open (09.07.2021)
Published in BMJ open (09.07.2021)
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Journal Article
Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder
Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, de Coo, I.F.M., Smeets, Hubert J.M., Chinnery, Patrick F.
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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Journal Article
Mitochondrial DNA and survival after sepsis: a prospective study
Baudouin, Simon V, Saunders, David, Tiangyou, Watcharee, Elson, Joanna L, Poynter, Jayne, Pyle, Angela, Keers, Sharon, Turnbull, Douglass M, Howell, Neil, Chinnery, Patrick F
Published in The Lancet (British edition) (17.12.2005)
Published in The Lancet (British edition) (17.12.2005)
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Journal Article
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem, Mahjneh, Ibrahim, Marconi, Giampiero, Passos-Bueno, Maria Rita, Moreira, Eloisa de S, Zatz, Mayana, Beckmann, Jacques S
Published in Nature genetics (01.09.1998)
Published in Nature genetics (01.09.1998)
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Journal Article
The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13
Bushby, K., Bashir, R., Keers, S., Britton, S., Zatz, M., Passos-Bueno, M.-R., Lovett, M., Mahjneh, I., Marconi, G., Strachan, T.
Published in Neuromuscular disorders : NMD (01.12.1996)
Published in Neuromuscular disorders : NMD (01.12.1996)
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Journal Article
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
Argov, Z, Sadeh, M, Mazor, K, Soffer, D, Kahana, E, Eisenberg, I, Mitrani-Rosenbaum, S, Richard, I, Beckmann, J, Keers, S, Bashir, R, Bushby, K, Rosenmann, H
Published in Brain (London, England : 1878) (01.06.2000)
Published in Brain (London, England : 1878) (01.06.2000)
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Journal Article
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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Journal Article
The Third Human FER-1-like Protein Is Highly Similar to Dysferlin
Britton, Stephen, Freeman, Tom, Vafiadaki, Elizabeth, Keers, Sharon, Harrison, Ruth, Bushby, Kate, Bashir, Rumaisa
Published in Genomics (San Diego, Calif.) (15.09.2000)
Published in Genomics (San Diego, Calif.) (15.09.2000)
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