B A Minassian

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. ncbi Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy
    B A Minassian
    Division of Neurology, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Ontario, Canada
    Neurology 59:596-601. 2002
  2. doi Fine-mapping the gene for X-linked myopathy with excessive autophagy
    I Munteanu
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Neurology 71:951-3. 2008
  3. pmc Lafora disease, seizures and sugars
    D M Andrade
    Division of Neurology, Krembil Neuroscience Centre, University of Toronto, Toronto Western Hospital, Toronto, Canada
    Acta Myol 26:83-6. 2007
  4. ncbi Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls
    H Lohi
    Program in Genetics and Genomic Biology and Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
    Neurology 68:996-1001. 2007
  5. ncbi Lafora's disease: towards a clinical, pathologic, and molecular synthesis
    B 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
  6. ncbi Nonepileptic visual hallucinations in Lafora disease
    D M Andrade
    Krembil Neuroscience Centre, Toronto Western Hospital, Toronto, Ontario, Canada
    Neurology 64:1311-2. 2005
  7. ncbi Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy
    I Munteanu
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Neurology 64:927-8. 2005
  8. doi Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures
    A K Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Clin Genet 82:540-5. 2012
  9. pmc 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 patients
    Y Petel-Galil
    J Med Genet 43:e56. 2006
  10. ncbi Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
    E M Chan
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Neurology 63:565-7. 2004

Collaborators

  • M Villanova
  • H Lohi
  • J B Vincent
  • M Auranen
  • F Zara
  • M A Mikati
  • B L Banwell
  • M Fardeau
  • J M Serratosa
  • I Munteanu
  • D M Andrade
  • E M Chan
  • A K Vincent
  • J T Kissel
  • G N Mnatzakanian
  • Y Petel-Galil
  • J Turnbull
  • S W Scherer
  • M Ayub
  • A Noor
  • A Janson
  • C F Morel
  • A V Delgado-Escueta
  • N Ramachandran
  • N Levy
  • B B Zeev
  • E Gak
  • I Greenbaum
  • M Vecsler
  • Y P Galil
  • B Goldman
  • B Benteer
  • J M del Campo
  • R A Wennberg
  • C A Ackerley
  • E Moro
  • C Bennett
  • J Sainz
  • L R Bridges
  • S Omer
  • M Ahmed
  • F Andermann
  • E Andermann
  • A D Paterson
  • D E Bulman
  • G A Rouleau
  • S Ryan
  • R J Baumann
  • S Bohlega
  • R S Sparkes
  • R Iranmanesh
  • M N Gee
  • L M Sakamoto

Detail Information

Publications12

  1. ncbi Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy
    B 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...
  2. doi Fine-mapping the gene for X-linked myopathy with excessive autophagy
    I Munteanu
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Neurology 71:951-3. 2008
  3. pmc Lafora disease, seizures and sugars
    D 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...
  4. ncbi Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls
    H 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...
  5. ncbi Lafora's disease: towards a clinical, pathologic, and molecular synthesis
    B 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...
  6. ncbi Nonepileptic visual hallucinations in Lafora disease
    D M Andrade
    Krembil Neuroscience Centre, Toronto Western Hospital, Toronto, Ontario, Canada
    Neurology 64:1311-2. 2005
  7. ncbi Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy
    I Munteanu
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Neurology 64:927-8. 2005
  8. doi Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures
    A 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...
  9. pmc 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 patients
    Y 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..
  10. ncbi Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
    E 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...
  11. pmc Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
    E 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...
  12. pmc Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities
    J Sainz
    Am J Hum Genet 61:1205-9. 1997