R Croxen

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 882 citations

Life Sciences, Genetics, Molecular Genetics +12

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor   Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

R Croxen, Claire Newland, David Beeson et al. · Human Molecular Genetics · 1997 · 164 citations

Medicine, Genetics, Molecular Genetics +17

Mutation of the acetylcholine receptor ?-subunit promoter in congenital myasthenic syndrome

Philip Nichols, R Croxen, Angela Vincent et al. · Annals of Neurology · 1999 · 86 citations

Medicine, Genetics, Molecular Genetics +17

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

R Croxen, C. J. Hatton, Chris Shelley et al. · Neurology · 2002 · 86 citations

Life Sciences, Genetics, Molecular Genetics +16

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

Sharon Brownlow, Richard Webster, R Croxen et al. · Journal of Clinical Investigation · 2001 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +16