Affiliation: The Hospital for Sick Children
- Long-term outcome in children with Guillain-Barré syndromeJiri 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...
- Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palateJiri 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...
- Walker-Warburg syndromeJiri 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...
- Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblastsJiri Vajsar
The Hospital for Sick Children, Toronto, ONT Canada
Neuromuscul Disord 16:132-6. 2006....
- Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutationSamiah 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...
- The role of defective glycosylation in congenital muscular dystrophyHarry 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...
- Anaerobic muscle performance of children after long-term recovery from Guillain-Barré syndromeDarcy 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...
- Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagentsWenli 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)...
- Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1Ryan 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...
- Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniquesHanna 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...
- Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variantEmma 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...