J. Vajsar

发表

A Source Analysis of the Late Human Auditory Evoked Potentials

M. Scherg, T. Picton, J. Vajsar, 1989, Journal of Cognitive Neuroscience.

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

R. Finkel, F. Rigo, D. Vivo, 2016, The Lancet.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

J. Al-Aama, K. Campbell, E. Dikoglu, 2016, American journal of human genetics.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Francesco Muntoni, William B. Dobyns, Stanley F. Nelson, 2012, Nature Genetics.

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Susan C. Brown, F. Muntoni, K. Mathews, 2016, Neuromuscular Disorders.

Evidence and Recommendations

G. Midroni, J. Vajsar, V. Bril, 2019 .

IGIV in Neurology — Evidence and Recommendations

G. Midroni, J. Vajsar, V. Bril, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Somatosensory evoked potentials and nerve conduction studies in patients with Guillain-Barré syndrome

Margot J. Taylor, W. Logan, J. Vajsar, 1992, Brain and Development.

Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome.

G. Kanra, H. Topaloglu, J. Vajsar, 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Video-Assisted Thoracoscopic Thymectomy in Juvenile Myasthenia Gravis

J. Vajsar, P. Kim, H. Kolski, 2001, Journal of child neurology.

G.P.48 Genotype–phenotype correlations in recessive RYR1 -related myopathies

M. Tarnopolsky, K. Mathews, J. Dowling, 2014, Neuromuscular Disorders.

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome.

V. Jay, L. Becker, D. MacGregor, 1995, Pediatric neurology.

The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.

P. Mullaney, J. R. Buncic, J. Vajsar, 2000, Ophthalmology.

Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

C. Hawkins, W. Dobyns, P. Ray, 2006, Neuromuscular Disorders.

MRI findings in congenital muscular dystrophies associated with brain abnormalities

J. Vajsar, 2006 .

Enterostomy tube placement in children with spinal muscular atrophy type 1.

S. Mahant, J. Vajsar, N. Taback, 2006, The Journal of pediatrics.

Muscle weakness in critically ill children

B. Banwell, L. Becker, J. Vajsar, 2003, Neurology.

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

C. Hawkins, J. Vajsar, D. Biggar, 2010, Neuromuscular Disorders.

Signs and Symptoms in Congenital Myopathies.

J. Dowling, J. Vajsar, H. Gonorazky, 2019, Seminars in pediatric neurology.

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

C. Campbell, J. Vajsar, C. Poulin, 2015, Neuromuscular Disorders.

Long-term outcome in children with Guillain-Barré syndrome.

J. Vajsar, D. Fehlings, D. Stephens, 2003, The Journal of pediatrics.

Plasmapheresis vs intravenous immunoglobulin treatment in childhood Guillain-Barré syndrome.

E. Wood, J. Vajsar, E. Murphy, 1994, Archives of pediatrics & adolescent medicine.

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

C. Ackerley, D. Chitayat, L. Becker, 2000, Pediatric neurology.

Axonal Neuropathy With Perineurial Hyperplasia: Report of a Case With Multifocal Involvement

V. Jay, R. Haslam, J. Vajsar, 1996, Journal of child neurology.

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

M. Tarnopolsky, J. Dowling, K. Kernohan, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d’excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy

B. Brais, A. MacKenzie, C. Campbell, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Long-chain l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response to cod liver oil

I. Tein, J. Vajsar, L. MacMillan, 1999, Neurology.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Susan C. Brown, F. Muntoni, C. Sewry, 2008, Archives of neurology.

Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease

V. Jay, P. Ray, J. Vajsar, 1998, Neurology.

Congenital cytoplasmic body myopathy with survival motor neuron (SMN) gene deletion or Werdnig-Hoffman disease?

V. Jay, P. Ray, J. Vajsar, 1997, Neuromuscular Disorders.

Thoracoscopic thymectomy in juvenile myasthenia gravis.

J. Vajsar, P. Kim, H. Kolski, 2000 .

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy

J. Dowling, E. Widjaja, J. Vajsar, 2017, Muscle & nerve.

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

W. Dobyns, H. Topaloglu, T. Toda, 2003, Clinical biochemistry.

The role of defective glycosylation in congenital muscular dystrophy

Wenli Zhang, J. Vajsar, H. Schachter, 2003, Glycoconjugate Journal.

Naturally Occurring Mutations at the Acetylcholine Receptor Binding Site Independently Alter ACh Binding and Channel Gating

K. Ohno, S. Sine, A. Engel, 2002, The Journal of general physiology.

Myasthenia gravis and polymyositis as manifestations of chronic graft-versus-host-disease

L. Becker, J. Vajsar, S. Tse, 1999, Bone Marrow Transplantation.

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

C. Hawkins, N. Laing, Ann Saada, 2004, Neuropediatrics.

Myopathies and Myotonic Disorders

J. Dowling, J. Vajsar, H. Gonorazky, 2017 .

Clinical Characteristics of Pediatric Myasthenia: A Surveillance Study

J. Vajsar, J. Vanderpluym, H. Kolski, 2013, Pediatrics.

Centronuclear myopathy and cardiomyopathy requiring heart transplant

V. Jay, L. Benson, I. Tein, 2003, Brain and Development.

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

L. Becker, R. Freedom, J. Vajsar, 1993, Journal of neurology, neurosurgery, and psychiatry.

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

B. Tseng, Ching H. Wang, E. Bertini, 2010, Journal of child neurology.

A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease

D. Chitayat, J. Vajsar, R. Babul‐Hirji, 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada

E. Yeh, J. Brophy, G. Bernard, 2017, Journal of child neurology.

Cardiac Manifestations of Congenital Fiber-Type Disproportion Myopathy

V. Jay, B. Banwell, L. Becker, 1999, Journal of child neurology.

Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

J. Dowling, J. Vajsar, V. Bril, 2021, Neuromuscular Disorders.

Diagnosis of limb‐girdle muscular dystrophy 2A by immunohistochemical techniques

B. Alman, C. Hawkins, M. Zatz, 2008, Neuropathology : official journal of the Japanese Society of Neuropathology.

Reliability estimates for steady-state evoked potentials.

T W Picton, K B Campbell, T. Picton, 1987, Electroencephalography and clinical neurophysiology.

Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols

B. Alman, L. Politano, J. Vajsar, 2004, Neuromuscular Disorders.

Walker-Warburg syndrome

J. Vajsar, H. Schachter, 2006, Orphanet journal of rare diseases.

Creatine monohydrate enhances strength and body composition in Duchenne muscular dystrophy

M. Tarnopolsky, T. Doherty, D. Mahoney, 2004, Neurology.

Severe classical congenital muscular dystrophy and merosin expression

V. Jay, D. Chitayat, L. Becker, 1998, Clinical genetics.

MRI of the cauda equina in CIDP: clinical correlations

G. Midroni, J. Vajsar, B. Gray, 1999, Journal of the Neurological Sciences.

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

C. Hawkins, P. Ray, J. Vajsar, 2012, Muscle & nerve.

Spontaneous non-traumatic anterior compartment syndrome with peroneal neuropathy and favorable outcome.

P. Babyn, J. Vajsar, R. Laxer, 1994, Neuropediatrics.

Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease

B. Banwell, J. Vajsar, I. Gaboury, 2010, Archives of Disease in Childhood.

Acute flaccid myelitis: cause, diagnosis, and management

Eliza M. Gordon-Lipkin, Elizabeth M. Wells, R. Scheuermann, 2020, The Lancet.

Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.

R. Finkel, C. Bennett, J. Montes, 2021, The Lancet. Child & adolescent health.

Results of a Phase 2 Open-Label Study of ISIS-SMNRx in Patients with Infantile (Type 1) Spinal Muscular Atrophy (S6.003)

R. Finkel, D. Vivo, J. Montes, 2014 .

Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6

J. Vajsar, S. Laughlin, P. Krishnan, 2017, Journal of Pediatric Neurology.

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate

P. Ray, K. Swoboda, J. Vajsar, 2008, Neuromuscular Disorders.

Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis

J. Vajsar, C. Ryan, I. Narang, 2020, Journal of child neurology.

Authors' Reply to Dr Kumar

J. Vajsar, H. Kolski, 2003 .

Zhang, W. et al. Enzymatic diagnostic test for muscle-eye-brain type congenital muscular dystrophy using commercially available reagents. Clin. Biochem. 36, 339-344

W. Dobyns, H. Topaloglu, T. Toda, 2003 .

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

D. Chitayat, P. Ray, S. Blaser, 2013, Pediatric neurology.

Amplitudes of sural and radial sensory nerve action potentials in orthodromic and antidromic studies in children.

J. Vajsar, L. MacMillan, J. L. Melendrez, 1998, Electromyography and clinical neurophysiology.

Anaerobic muscle performance of children after long‐term recovery from Guillain‐Barré syndrome

O. Bar-or, J. Vajsar, D. Fehlings, 2004, Developmental Medicine & Child Neurology.

Efficacy and safety of thoracoscopic thymectomy in the treatment of juvenile myasthenia gravis

J. Vajsar, E. Christison-Lagay, P. Kim, 2013, Pediatric Surgery International.

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

R. J. Ramamurthi, S. Y. Kim, H. Y. Wang, 2017, The New England journal of medicine.

Interim Results of a Phase 2 Clinical Study of Nusinersen (ISIS-SMNRx) in Patients with Infantile-Onset Spinal Muscular Atrophy (P5.004)

R. Finkel, F. Rigo, D. Vivo, 2016 .

Video-Assisted Thoracoscopic Thymectomy in Juvenile Myasthenia Gravis

J. Vajsar, P. Kim, H. Kolski, 2001, Journal of child neurology.

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

M. Tarnopolsky, J. Dowling, K. Kernohan, 2021, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

A National Spinal Muscular Atrophy Registry for Real-World Evidence

A. McCormick, A. Izenberg, B. Brais, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Thoracoscopic thymectomy in juvenile myasthenia gravis.

J. Vajsar, H. Kolski, P. C. Kim, 2000, Journal of pediatric surgery.