Authors:
Li, FY
Szobor, A
Croxen, R
Anselmo, V
Yuan, QP
Lindblad, K
Schalling, M
Komoly, S
Beeson, D
Larsson, C
Citation: Fy. Li et al., Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci, INT J MOL M, 7(3), 2001, pp. 289-294
Authors:
Spelbrink, JN
Li, FY
Tiranti, V
Nikali, K
Yuan, QP
Tariq, M
Wanrooij, S
Garrido, N
Comi, G
Morandi, L
Santoro, L
Toscano, A
Fabrizi, GM
Somer, H
Croxen, R
Beeson, D
Poulton, J
Suomalainen, A
Jacobs, HT
Zeviani, M
Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001), NAT GENET, 29(1), 2001, pp. 100-100
Authors:
Spelbrink, JN
Li, FY
Tiranti, V
Nikali, K
Yuan, QP
Tariq, M
Wanrooij, S
Garrido, N
Comi, G
Morandi, L
Santoro, L
Toscano, A
Fabrizi, GM
Somer, H
Croxen, R
Beeson, D
Poulton, L
Suomalainen, A
Jacobs, HT
Zeviani, M
Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria, NAT GENET, 28(3), 2001, pp. 223-231
Authors:
Croxen, R
Young, C
Slater, C
Haslam, S
Brydson, M
Vincent, A
Beeson, D
Citation: R. Croxen et al., End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations, BRAIN, 124, 2001, pp. 1362-1372
Authors:
Blaes, F
Beeson, D
Plested, P
Lang, B
Vincent, A
Citation: F. Blaes et al., IgG from "seronegative" myasthenia gravis patients binds to a muscle cell line, TE671, but not to human acetylcholine receptor, ANN NEUROL, 47(4), 2000, pp. 504-510
Citation: E. Fostieri et al., The conformation of the main immunogenic region on the alpha-subunit of muscle acetylcholine receptor is affected by neighboring receptor subunits, FEBS LETTER, 481(2), 2000, pp. 127-130
Citation: A. Vincent et al., Molecular targets for autoimmune and genetic disorders of neuromuscular transmission, EUR J BIOCH, 267(23), 2000, pp. 6717-6728
Citation: D. Beeson et J. Newsom-davis, Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes, CHANNELOPATHIES - COMMON MECHANISMS IN AURA, ARRHYTHMIA AND ALKALOSIS, 2000, pp. 85-114
Authors:
Croxen, R
Newland, C
Betty, M
Vincent, A
Newsom-Davis, J
Beeson, D
Citation: R. Croxen et al., Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome, ANN NEUROL, 46(4), 1999, pp. 639-647
Authors:
Nichols, P
Croxen, R
Vincent, A
Rutter, R
Hutchinson, M
Newsom-Davis, J
Beeson, D
Citation: P. Nichols et al., Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome, ANN NEUROL, 45(4), 1999, pp. 439-443
Authors:
Hill, M
Beeson, D
Moss, P
Jacobson, L
Bond, A
Corlett, L
Newsom-Davis, J
Vincent, A
Willcox, N
Citation: M. Hill et al., Early-onset myasthenia gravis: A recurring T-cell epitope in the adult-specific acetylcholine receptor epsilon subunit presented by the susceptibility allele HLA-DR52a, ANN NEUROL, 45(2), 1999, pp. 224-231
Authors:
Jacobson, L
Beeson, D
Tzartos, S
Vincent, A
Citation: L. Jacobson et al., Monoclonal antibodies raised against human acetylcholine receptor bind to all five subunits of the fetal isoform, J NEUROIMM, 98(2), 1999, pp. 112-120
Authors:
Li, FY
Tariq, M
Croxen, R
Morten, K
Squier, W
Newsom-Davis, J
Beeson, D
Larsson, C
Citation: Fy. Li et al., Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24, NEUROLOGY, 53(6), 1999, pp. 1265-1271
Authors:
Evangelou, N
Jackson, M
Beeson, D
Palace, J
Citation: N. Evangelou et al., Association of the APOE epsilon 4 allele with disease activity in multiplesclerosis, J NE NE PSY, 67(2), 1999, pp. 203-205