R. Mark Gardiner
Institute of Child Health(GR)University College London(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Ion channel regulation and function, Metabolism and Genetic Disorders
Most-Cited Works
- → A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis(1998)997 cited
- → SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes(2006)747 cited
- → Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome(1999)384 cited
- → Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities(2009)342 cited
- → Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in theCacna2d2Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells(2001)324 cited
- → A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families(1996)251 cited
- → Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease(1999)205 cited
- → Spectrum of Mutations in the Batten Disease Gene, CLN3(1997)205 cited
- → DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY(1989)203 cited
- → Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24(1997)189 cited