B A Minassian
Affiliation: The Hospital for Sick Children
- Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagyB A Minassian
Division of Neurology, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Ontario, Canada
Neurology 59:596-601. 2002..With this sequence, a gene map of 82 genes and 28 expressed sequence tag clusters was constructed; to date, 12 candidate genes have been screened for mutations...
- Fine-mapping the gene for X-linked myopathy with excessive autophagyI Munteanu
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Neurology 71:951-3. 2008
- Lafora disease, seizures and sugarsD M Andrade
Division of Neurology, Krembil Neuroscience Centre, University of Toronto, Toronto Western Hospital, Toronto, Canada
Acta Myol 26:83-6. 2007..This review will briefly address clinical issues and will focus on the molecular aspects of the disease...
- Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfallsH Lohi
Program in Genetics and Genomic Biology and Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
Neurology 68:996-1001. 2007..We confirm that adult-onset LD is due to EPM2B mutations. Finally, we report major intrafamilial heterogeneity in age at onset in LD...
- Lafora's disease: towards a clinical, pathologic, and molecular synthesisB A Minassian
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, M5G 1X8, Toronto, Ontario, Canada
Pediatr Neurol 25:21-9. 2001..Work toward establishing the connection between laforin and Lafora's disease polyglucosans is underway, as are attempts to replace it into the central nervous system of patients with Lafora's disease...
- Nonepileptic visual hallucinations in Lafora diseaseD M Andrade
Krembil Neuroscience Centre, Toronto Western Hospital, Toronto, Ontario, Canada
Neurology 64:1311-2. 2005
- Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagyI Munteanu
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Neurology 64:927-8. 2005
- Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizuresA K Vincent
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Clin Genet 82:540-5. 2012..The deletion spans the entire PCDH19 gene (also TNMD, SRPX2, TSPAN6 and SYTL4). In conclusion, our results suggest that deletions at PCDH19 also cause EFMR...
- Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil
J Med Genet 43:e56. 2006..Despite advances in the characterisation of mutations in the MECP2-coding region, a small proportion of classic RTT cases remain without recognisable mutations. Objective and..
- Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locusE M Chan
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
Neurology 63:565-7. 2004..Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD...
- Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22E M Chan
Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
J Med Genet 40:671-5. 2003..It causes severe seizures, leading to dementia and eventually death in early adulthood...
- Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygositiesJ Sainz
Am J Hum Genet 61:1205-9. 1997