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Author Details

Hernan Gonorazky
The Hospital for Sick Children, University of Toronto
2014
38
13
PMIDPaper TitleJournal TitlePublished Year
36193036Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.Pediatr Pulmonol2023
35831924High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic.Can J Neurol Sci2023
37457373Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects.HGG Adv2023
37419673Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study.Arch Dis Child2023
36945405Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects.medRxiv2023
37070062CAMK4-related Case of Hyperkinetic Movement Disorder.Mov Disord Clin Pract2023
37129643Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.J Neurol2023
36845668Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.HGG Adv2023
36353900Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.Clin Genet2023
34082851Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective.Can J Neurol Sci2022
36210261PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.Neuromuscul Disord2022
36382115Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era.Neurol Clin Pract2022
35216880Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care.Neuromuscul Disord2022
34620260Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.Can J Neurol Sci2022
32935233The Child &amp; Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS).Childs Nerv Syst2021
34016710Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.Neurology2021
33059774Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.Can J Neurol Sci2021
32426512Biallelic LINE insertion mutation in <i>HACD1</i> causing congenital myopathy.Neurol Genet2020
32075891Drisapersen associated with elevated serum factor VIII levels in Duchenne muscular dystrophy.Neurology2020
33101983Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <i>PEX3</i> defect: Case report and literature review.Mol Genet Metab Rep2020
32493524A National Spinal Muscular Atrophy Registry for Real-World Evidence.Can J Neurol Sci2020
31051109Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.Am J Hum Genet2019
31060723Signs and Symptoms in Congenital Myopathies.Semin Pediatr Neurol2019
30827497Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.Am J Hum Genet2019
28889642Treating pediatric neuromuscular disorders: The future is now.Am J Med Genet A2018
30381913Triple A syndrome presenting as complicated hereditary spastic paraplegia.Mol Genet Genomic Med2018
29759639Uniparental disomy unveils a novel recessive mutation in POMT2.Neuromuscul Disord2018
29478600The genetics of congenital myopathies.Handb Clin Neurol2018
28012042Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Acta Neuropathol2017
28424332Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Sci Transl Med2017
28262468Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.Neuromuscul Disord2017
28852708A novel intronic mutation in <i>MTM1</i> detected by RNA analysis in a case of X-linked myotubular myopathy.Neurol Genet2017
28667691Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.Muscle Nerve2017
26686765Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.Am J Hum Genet2016
27725122Immune-mediated rippling muscle disease and myasthenia gravis.J Neuroimmunol2016
27548528PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.J Clin Invest2016
26783550RNAseq analysis for the diagnosis of muscular dystrophy.Ann Clin Transl Neurol2015
25260562Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.Brain2014
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Collaborators

Hugh J McMillan
Montreal Children's Hospital, McGill University
Co-authored papers 5
Mark A Tarnopolsky
McMaster University Medical Center
Co-authored papers 5
Christian R Marshall
Co-authored papers 4
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 3
Jackie Chiang
The Hospital for Sick Children, University of Toronto
Co-authored papers 3
Reshma Amin
The Hospital for Sick Children, University of Toronto
Co-authored papers 3
Michael Brudno
University of Toronto
Co-authored papers 3
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Co-authored papers 2
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 2
Kati J Buckingham
University of Washington
Co-authored papers 2
Lauren M Weinstock
Warren Alpert Medical School of Brown University
Co-authored papers 2
Michael D Wilson
SickKids Research Institute
Co-authored papers 2
Michael J Bamshad
University of Washington
Co-authored papers 2
Beryl B Cummings
Co-authored papers 2
Monkol Lek
Co-authored papers 2
Eugenia Law
The Hospital for Sick Children
Co-authored papers 2
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 1
Kevin P Campbell
Co-authored papers 1
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 1
Lena Xiao
The Hospital for Sick Children
Co-authored papers 1
Daniel Birnbaum
Co-authored papers 1
Anna Sarkozy
Co-authored papers 1
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Co-authored papers 1
Kathryn N North
Murdoch Children's Research Institute
Co-authored papers 1
Elisa Nigro
The Hospital for Sick Children
Co-authored papers 1
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 1
Minggao Liang
University of Toronto
Co-authored papers 1
Konrad J Karczewski
Broad Institute of MIT and Harvard
Co-authored papers 1
Ben Weisburd
Broad Institute of MIT and Harvard
Co-authored papers 1
Enrico Bertini
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