PubRank

Philip Jardine

Author PubWeight™ 15.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol 2010 2.60
2 Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009 2.53
3 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest 2009 1.60
4 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 2008 1.30
5 A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Eur J Paediatr Neurol 2009 1.21
6 Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol 2002 1.08
7 Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 2012 1.08
8 SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 2013 1.05
9 Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain 2013 0.93
10 Paediatric UK demyelinating disease longitudinal study (PUDDLS). BMC Pediatr 2011 0.81
11 Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). Neuromuscul Disord 2007 0.77
12 High frequency stimulation of the mamillothalamic tract for the treatment of resistant seizures associated with hypothalamic hamartoma. Epilepsia 2009 0.76
13 Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. JIMD Rep 2013 0.75
14 Dopa responsive dystonia. BMJ 2010 0.75
15 Very long chain fatty acid levels in patients diagnosed with multiple sclerosis. Mult Scler 2009 0.75