R M Gardiner

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Robyn H. Wallace, Bree Hodgson, Bronwyn E. Grinton et al. · Neurology · 2003 · 187 citations

Medicine, Genetics, Neurology +17

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

J-L Blouin, Maggie Meeks, Uppala Radhakrishna et al. · European Journal of Human Genetics · 2000 · 150 citations

Life Sciences, Genetics, Molecular Genetics +9

Properties of human glycine receptors containing the hyperekplexia mutation α1(K276E), expressed in <i>Xenopus</i> oocytes

T. Lewis, Lucia G. Sivilotti, David Colquhoun et al. · The Journal of Physiology · 1998 · 102 citations · Full text

Life Sciences, Neuroscience, Pharmacology +17

Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

Hans Eiberg, R M Gardiner, Jan Mohr · Clinical Genetics · 1989 · 88 citations

Life Sciences, Genetics, Molecular Genetics +6

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

William Whitehouse, Mark I. Rees, David Curtis et al. · PubMed · 1993 · 87 citations

Life Sciences, Genetics, Molecular Genetics +10