Publications by authors named "Kimberly Amburgey"

14Publications

Biallelic LINE insertion mutation in causing congenital myopathy.

Neurol Genet 2020 Jun 13;6(3):e423. Epub 2020 Apr 13.

Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.

View Article and Find Full Text PDF
June 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

View Article and Find Full Text PDF
June 2019

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 and Find Full Text PDF
October 2017

A natural history study of X-linked myotubular myopathy.

Neurology 2017 Sep 25;89(13):1355-1364. Epub 2017 Aug 25.

From the Division of Neurology (K.A., E.T., C.-T.N., J.J.D.) and Program for Genetics and Genome Biology (E.T., J.J.D.), Hospital for Sick Children; Departments of Paediatrics (K.A., J.J.D.), Computer Science (M.G.), and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada; Cure CMD (R.A., S.d.C., A.R.), Torrance, CA; Autodesk Research (M.G.), Toronto, Ontario, Canada; Kaiser SCPMG (A.R.), Torrance, CA; Physical Medicine and Rehabilitation (J.H.), University of Michigan, Ann Arbor; and Division of Genetics and Genomics (A.H.B.), The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.

View Article and Find Full Text PDF
September 2017

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 and Find Full Text PDF
November 2017

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Neuromuscul Disord 2016 Mar 23;26(3):201-6. Epub 2016 Feb 23.

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, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article and Find Full Text PDF
March 2016

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

View Article and Find Full Text PDF
February 2014

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

View Article and Find Full Text PDF
August 2013

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Neuromuscul Disord 2013 May 9;23(5):432-6. Epub 2013 Mar 9.

INMR, The Children's Hospital at Westmead & Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

View Article and Find Full Text PDF
May 2013

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.

J Genet Couns 2012 Oct 25;21(5):713-25. Epub 2012 Feb 25.

Adult Genetics Clinic, University of Colorado Hospital, Aurora, 80045, USA.

View Article and Find Full Text PDF
October 2012

TRPM7 is required within zebrafish sensory neurons for the activation of touch-evoked escape behaviors.

J Neurosci 2011 Aug;31(32):11633-44

Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan, 48109-1048, USA.

View Article and Find Full Text PDF
August 2011