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Results: 1-8 |
Results: 8
Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci
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
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)
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
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
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
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
Authors: Brownlow, S Webster, R Croxen, R Brydson, M Neville, B Lin, JP Vincent, A Newsom-Davis, J Beeson, D
Citation: S. Brownlow et al., Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita, J CLIN INV, 108(1), 2001, pp. 125-130
End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations
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
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome
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
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
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
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24
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
Risultati: 1-8 |