Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome. by Shelley, C, Brydson, M, Beeson, D, Colquhoun, D

Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits. by Hatton, C, Shelley, C, Brydson, M, Beeson, D, Colquhoun, D

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations. by Croxen, R, Young, C, Slater, C, Haslam, S, Brydson, M, Vincent, A, Beeson, D

Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients by Bonifati, D, Webster, R, Maxwell, S, Brydson, M, Polizzi, A, Vincent, A, Beeson, D

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations by Bonifati, D, Webster, R, Maxwell, S, Brydson, M, Polizzi, A, Vincent, A, Beeson, D

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. by Webster, R, Brydson, M, Croxen, R, Newsom-Davis, J, Vincent, A, Beeson, D

A cysteine residue close to the C-terminus of the E subunit is essential for surface acetylcholine receptor (AChR) expression: Implications for AChR deficiency syndrome by Ealing, J, Brownlow, S, Al-Murani, M, Brydson, M, Vincent, A, Vaux, D, Beeson, D

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. by Brownlow, S, Webster, R, Croxen, R, Brydson, M, Neville, B, Lin, J, Vincent, A, Newsom-Davis, J, Beeson, D

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009) by Croxen, R, Hatton, C, Shelley, C, Brydson, M, Chauplannaz, G, Oosterhuis, H, Vincent, A, Newsom-Davis, J, Colquhoun, D, Beeson, D

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. by Croxen, R, Hatton, C, Shelley, C, Brydson, M, Chauplannaz, G, Oosterhuis, H, Vincent, A, Newsom-Davis, J, Colquhoun, D, Beeson, D

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. by Beeson, D, Webster, R, Ealing, J, Croxen, R, Brownlow, S, Brydson, M, Newsom-Davis, J, Slater, C, Hatton, C, Shelley, C, Colquhoun, D, Vincent, A