Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD
Pyle, Angela, Foltynie, Thomas, Tiangyou, Watcharee, Lambert, Claire, Keers, Sharon M., Allcock, Liesl M., Davison, Jill, Lewis, Simon J., Perry, Robert H., Barker, Roger, Burn, David J., Chinnery, Patrick F.
Published in Annals of neurology (01.04.2005)
Published in Annals of neurology (01.04.2005)
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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
Molecular epidemiology of spinocerebellar ataxia type 6
Craig, Kate, Keers, Sharon M., Archibald, Kate, Curtis, Ann, Chinnery, Patrick F.
Published in Annals of neurology (01.05.2004)
Published in Annals of neurology (01.05.2004)
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Journal Article
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
Craig, Kate, Keers, Sharon M., Walls, Timothy J., Curtis, Anne, Chinnery, Patrick F.
Published in Journal of the neurological sciences (15.12.2005)
Published in Journal of the neurological sciences (15.12.2005)
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Journal Article
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation
Vafiadaki, E, Reis, A, Keers, S, Harrison, R, Anderson, L V, Raffelsberger, T, Ivanova, S, Hoger, H, Bittner, R E, Bushby, K, Bashir, R
Published in Neuroreport (05.03.2001)
Published in Neuroreport (05.03.2001)
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Journal Article
Proteomic characterization of neuromelanin granules isolated from human substantia nigra by laser-microdissection
Plum, Sarah, Steinbach, Simone, Attems, Johannes, Keers, Sharon, Riederer, Peter, Gerlach, Manfred, May, Caroline, Marcus, Katrin
Published in Scientific reports (14.11.2016)
Published in Scientific reports (14.11.2016)
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Journal Article
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis
Klinge, Lars, Laval, Steve, Keers, Sharon, Haldane, Faye, Straub, Volker, Barresi, Rita, Bushby, Kate
Published in The FASEB journal (01.06.2007)
Published in The FASEB journal (01.06.2007)
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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
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
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
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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Journal Article
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
Bashir, R, Strachan, T, Keers, S, Stephenson, A, Mahjneh, I, Marconi, G, Nashef, L, Bushby, K M
Published in Human molecular genetics (01.03.1994)
Published in Human molecular genetics (01.03.1994)
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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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Journal Article
Muscular dystrophy due to dysferlin deficiency in Libyan Jews
Argov, Zohar, Sadeh, Menachem, Mazor, Kineret, Soffer, Dov, Kahana, Esther, Eisenberg, Iris, Mitrani-Rosenbaum, Stella, Richard, Isabelle, Beckmann, Jacques, Keers, Sharon, Bashir, Rumaisa, Bushby, Kate, Rosenmann, Hanna
Published in Brain (London, England : 1878) (01.06.2000)
Published in Brain (London, England : 1878) (01.06.2000)
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