List of works - Peter B Kang

A form of muscular dystrophy associated with pathogenic variants in JAG2

scientific article published on 15 April 2021

A two-year-old girl with acute onset of seizures and progressive encephalopathy ⬇️

scientific article published on December 1, 1997

Emery-Dreifuss muscular dystrophy ⬇️

scientific article published on 28 December 2019

Ethical decision-making for children with neuromuscular disorders in the COVID-19 crisis

scientific article published on 01 June 2020

Hunting for the perfect test: neuromuscular diagnosis in the age of genomic bounty

scientific article published on 31 December 2020

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

scientific article published on 28 January 2019

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration

scientific article published on 07 November 2020

MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation ⬇️

scientific article published on June 14, 2013

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE ⬇️

scientific article published on June 28, 2011

POLRMT mutations impair mitochondrial transcription causing neurological disease

scientific article published on 18 February 2021

Presymptomatic and Early Symptomatic Genetic Testing ⬇️

scientific article published on 01 April 2011

Rapid reversal of uremic neuropathy following renal transplantation in an adolescent ⬇️

scientific article published on December 21, 2011

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy ⬇️

scientific article published on May 1, 2013

The Spectrum of Myotonic and Myopathic Disorders in a Pediatric Electromyography Laboratory Over 12 Years ⬇️

scientific article published on 01 August 2012

The struggle to model muscular dystrophy ⬇️

scientific article published on 09 June 2011

Update on the Genetics of Limb Girdle Muscular Dystrophy ⬇️

scientific article published on December 1, 2012

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement

scientific article published on 01 February 2020

List of works by Peter B Kang