Philip Jardine

Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

E. E. Kors, Gisela M. Terwindt, F Vermeulen et al. · Annals of Neurology · 2001 · 361 citations

Life Sciences, Genetics, Neurology +12

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino, Barry J. Byrne, J. Edmund Wraith et al. · Genetics in Medicine · 2009 · 292 citations · Full text

Pharmacy, Pediatrics, Pharmacotherapy +6

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Manju A. Kurian, Juan Zhen, Shuyuan Cheng et al. · Journal of Clinical Investigation · 2009 · 224 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Peter Lunt, Philip Jardine, Manuela C. Koch et al. · Human Molecular Genetics · 1995 · 209 citations

Medicine, Genetics, Molecular Genetics +11

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Manju A. Kurian, Yan Li, Juan Zhen et al. · The Lancet Neurology · 2010 · 208 citations · Full text

Life Sciences, Genetics, Neurology +17