Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)Manju A Kurian
Neurosciences Unit, Institute of Child Health University College London and Great Ormond Street Hospital, London, UK
Dev Med Child Neurol 53:394-404. 2011
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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, and Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK
Lancet Neurol 10:54-62. 2011
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- Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
Manju A Kurian
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, United Kingdom
J Clin Invest 119:1595-603. 2009
..Identification of the molecular basis of IPD suggests SLC6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features...
- A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
Esther Meyer
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
Mol Genet Metab 99:325-8. 2010
..194dupG) at a mononucleotide repeat in exon 1 predicted to result in a truncated protein (p.Cys66LeufsX99). This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum...
- Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A Kurian
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK
Brain 133:2964-70. 2010
..Thus, the discovery of a phospholipase C-β 1 mutation allows us to propose a novel potential underlying mechanism in early-onset epileptic encephalopathy...
- Loss-of-function mutations in RAB18 cause Warburg micro syndrome
Danai Bem
Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK
Am J Hum Genet 88:499-507. 2011
..Knockdown of rab18 in zebrafish suggests that it might have a conserved developmental role. Our findings imply that RAB18 has a critical role in human brain and eye development and neurodegeneration...
- Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
Laura Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK
Dev Med Child Neurol 55:327-34. 2013
..To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group...
- Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis
Danielle Crompton
West Midlands Regional Genetic Service, Birmingham Women s Hospital, Metchley Park Lane, Birmingham, UK
Mol Genet Metab 100:207-12. 2010
..5% of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing...
