Hernan D Gonorazky

Hernan D Gonorazky

UNVERIFIED PROFILE

Are you Hernan D Gonorazky?   Register this Author

Register author
Hernan D Gonorazky

Hernan D Gonorazky

Publications by authors named "Hernan D Gonorazky"

Are you Hernan D Gonorazky?   Register this Author

11Publications

263Reads

34Profile Views

Signs and Symptoms in Congenital Myopathies.

Semin Pediatr Neurol 2019 04 16;29:3-11. Epub 2019 Jan 16.

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.spen.2019.01.002DOI Listing
April 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Am J Hum Genet 2019 03 28;104(3):466-483. Epub 2019 Feb 28.

Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297193001
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407525PMC
March 2019

The genetics of congenital myopathies.

Handb Clin Neurol 2018 ;148:549-564

Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/B97804446407650
Publisher Site
http://dx.doi.org/10.1016/B978-0-444-64076-5.00036-3DOI Listing
August 2018

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

Treating pediatric neuromuscular disorders: The future is now.

Am J Med Genet A 2018 Apr 10;176(4):804-841. Epub 2017 Sep 10.

Department of Pediatrics, Clinical Neurological Sciences, Epidemiology, Western University, London, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38418
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900978PMC
April 2018

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

Muscle Nerve 2017 11 18;56(5):E41-E44. Epub 2017 Jul 18.

Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25737DOI Listing
November 2017

A novel intronic mutation in detected by RNA analysis in a case of X-linked myotubular myopathy.

Neurol Genet 2017 Oct 24;3(5):e182. Epub 2017 Aug 24.

Division of Neurology (A.A.-H., H.G., K.A., J.J.D.) and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children; Department of Paediatrics (J.J.D.) and Deparmtent of Molecular Genetics (J.J.D.), University of Toronto, ON, Canada; Division of Neurology (A.A.-H.), King Fahad Medical City, Riyadh, Saudi Arabia; and Department of Human Genetics (S.D.), University of Chicago, IL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570672PMC
October 2017

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Neuromuscul Disord 2017 Jun 8;27(6):574-580. Epub 2017 Feb 8.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.02.001DOI Listing
June 2017

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Am J Hum Genet 2016 Jan 10;98(1):90-101. Epub 2015 Dec 10.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2040911867/2054828527/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500457
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716669PMC
January 2016