The Neuromuscular Disease Network for Canada

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Hernan Gonorazky

Hernan Gonorazky profile picture

Collaborator

Hernan D. Gonorazky M.D. CSCN Diplomate (EMG) Assistant Professor, Faculty of Medicine University of Toronto Division of Neurology, Department of Paediatrics Director, Neuromuscular Fellowship Program The Hospital for Sick Children

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Biography

Dr. Gonorazky graduated from medical school at University of Buenos Aires. He completed his residency in adult neurology and afterward he did his specialization in adult neuromuscular disorders.

He continued his studies in paediatric neuromuscular disorders at Sickkids in 2014 and became a permanent Staff in 2019. Since then, he has been working on translational and clinical research with special interest in SMA and congenital myopathy.

Dr. Gonorazky co-leads the NMD4C’s work in developing a clinical research curriculum for neuromuscular fellowship programs.

Recent publications

Yan, H, Siegel, L, Breitbart, S, Gorodetsky, C, Gonorazky, HD, Yau, I et al.. The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS). Childs Nerv Syst. 2020. PMID:32935233

Al Amrani, F, Gorodetsky, C, Hazrati, LN, Amburgey, K, Gonorazky, HD, Dowling, JJ et al.. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. Neurol Genet. 2020.6 (3)e423 PMID:32426512

Gonorazky, HD, Dowling, JJ, Volpatti, JR, Vajsar, J. Signs and Symptoms in Congenital Myopathies. Semin Pediatr Neurol. 2019.29 3-11 PMID:31060723

Gonorazky, HD, Naumenko, S, Ramani, AK, Nelakuditi, V, Mashouri, P, Wang, P et al.. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019.104 (5)1007 PMID:31051109

Gonorazky, HD, Naumenko, S, Ramani, AK, Nelakuditi, V, Mashouri, P, Wang, P et al.. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019.104 (3)466-483 PMID:30827497

Leveille, E, Gonorazky, HD, Rioux, MF, Hazrati, LN, Ruskey, JA, Carnevale, A et al.. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Mol Genet Genomic Med. 2018.6 (6)1134-1139 PMID:30381913

Brun, BN, Willer, T, Darbro, BW, Gonorazky, HD, Naumenko, S, Dowling, JJ et al.. Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord. 2018.28 (7)592-596 PMID:29759639

Gonorazky, HD, Bönnemann, CG, Dowling, JJ. The genetics of congenital myopathies. Handb Clin Neurol. 2018.148 549-564 PMID:29478600

Al-Hashim, A, Gonorazky, HD, Amburgey, K, Das, S, Dowling, JJ. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. Neurol Genet. 2017.3 (5)e182 PMID:28852708

Gonorazky, HD, Amburgey, K, Yoon, G, Vajsar, J, Widjaja, E, Dowling, JJ et al.. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle Nerve. 2017.56 (5)E41-E44 PMID:28667691

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