Jiri Vajsar

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. ncbi request reprint Long-term outcome in children with Guillain-Barré syndrome
    Jiri Vajsar
    Division of Neurology, Department of Pediatrics, Population Health Sciences, Ontario, Canada
    J Pediatr 142:305-9. 2003
  2. doi request reprint Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate
    Jiri Vajsar
    Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont, Canada M5G 1X8
    Neuromuscul Disord 18:675-7. 2008
  3. pmc Walker-Warburg syndrome
    Jiri Vajsar
    Division of Child Neurology, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, ON, Canada
    Orphanet J Rare Dis 1:29. 2006
  4. ncbi request reprint Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
    Jiri Vajsar
    The Hospital for Sick Children, Toronto, ONT Canada
    Neuromuscul Disord 16:132-6. 2006
  5. doi request reprint Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation
    Samiah A Al-Zaidy
    Neurology Division, Hospital for Sick Children, Toronto, Canada
    Muscle Nerve 45:752-5. 2012
  6. ncbi request reprint The role of defective glycosylation in congenital muscular dystrophy
    Harry Schachter
    Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont M5G 1X8, Canada
    Glycoconj J 20:291-300. 2004
  7. ncbi request reprint Anaerobic muscle performance of children after long-term recovery from Guillain-Barré syndrome
    Darcy Fehlings
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 46:689-93. 2004
  8. ncbi request reprint Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
    Wenli Zhang
    Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Ont M5G 1X8, Toronto, Canada
    Clin Biochem 36:339-44. 2003
  9. doi request reprint Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1
    Ryan M Hung
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Neuromuscul Disord 20:238-40. 2010
  10. ncbi request reprint Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
    Hanna K Kolski
    Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
    Neuropathology 28:264-8. 2008

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Long-term outcome in children with Guillain-Barré syndrome
    Jiri Vajsar
    Division of Neurology, Department of Pediatrics, Population Health Sciences, Ontario, Canada
    J Pediatr 142:305-9. 2003
    ..Manual muscle strength testing was done on 34 muscle groups. The functional independence measure was used to assess function. A chart review was completed, identifying acute factors that may predict long-term sequelae...
  2. doi request reprint Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate
    Jiri Vajsar
    Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont, Canada M5G 1X8
    Neuromuscul Disord 18:675-7. 2008
    ..We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first...
  3. pmc Walker-Warburg syndrome
    Jiri Vajsar
    Division of Child Neurology, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, ON, Canada
    Orphanet J Rare Dis 1:29. 2006
    ..Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive...
  4. ncbi request reprint Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
    Jiri Vajsar
    The Hospital for Sick Children, Toronto, ONT Canada
    Neuromuscul Disord 16:132-6. 2006
    ....
  5. doi request reprint Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation
    Samiah A Al-Zaidy
    Neurology Division, Hospital for Sick Children, Toronto, Canada
    Muscle Nerve 45:752-5. 2012
    ..Congenital muscular dystrophies (CMD) with hypoglycosylated α-dystroglycan due to POMT1 mutations are associated with clinical phenotypes that vary in severity...
  6. ncbi request reprint The role of defective glycosylation in congenital muscular dystrophy
    Harry Schachter
    Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont M5G 1X8, Canada
    Glycoconj J 20:291-300. 2004
    ..It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation...
  7. ncbi request reprint Anaerobic muscle performance of children after long-term recovery from Guillain-Barré syndrome
    Darcy Fehlings
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 46:689-93. 2004
    ..Muscle endurance, measured by mean muscle power, was normal in the legs but markedly low in the arms. Pediatric rehabilitation programs after GBS should specifically target endurance of arm muscles...
  8. ncbi request reprint Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
    Wenli Zhang
    Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Ont M5G 1X8, Toronto, Canada
    Clin Biochem 36:339-44. 2003
    ..The objective is to develop a diagnostic test for one of these CMDs, Muscle-Eye-Brain disease (MEB), due to mutations in the gene encoding Protein O-Mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1)...
  9. doi request reprint Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1
    Ryan M Hung
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Neuromuscul Disord 20:238-40. 2010
    ..In addition to a new ACTA1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness...
  10. ncbi request reprint Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques
    Hanna K Kolski
    Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
    Neuropathology 28:264-8. 2008
    ..This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemical methods should be re-evaluated for the screening of undiagnosed patients with suspected LGMD 2A...
  11. doi request reprint Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
    Emma M Clement
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England
    Arch Neurol 65:137-41. 2008
    ..Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation...