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Biljana Ilkovski | Researchclopedia

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Biljana Ilkovski

Children's Hospital at Westmead

34

Works

1,777

Citations

21

h-index

24

i10-index

Research Topics

Cardiomyopathy and Myosin Studies Muscle Physiology and Disorders Genetic Neurodegenerative Diseases

Affiliations

University of Sydney2001–2014

Children's Medical Research Institute2007–2007

Royal North Shore Hospital2001–2001

Children's Hospital at Westmead2001–2016

Westmead Institute2011–2014

Top Works

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen,Sarah A. Sandaradura,et al.

2014202 citations

Nuclear Structure and Function

Neurogenetic and Muscular Disorders Research

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin,Kyle S. Yau,et al.

2010159 citations

Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene

Biljana Ilkovski,Sandra T. Cooper,et al.

2001157 citations

Clinical course correlates poorly with muscle pathology in nemaline myopathy

Monique M. Ryan,Biljana Ilkovski,et al.

2003130 citations

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Rachel Susman,Susana Quijano-Roy,et al.

2010109 citations

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady,Heather Best,et al.

2016105 citations

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Biljana Ilkovski

2004100 citations

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

Biljana Ilkovski,Sophie Clément,et al.

200588 citations

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Alison G. Compton,Douglas E. Albrecht,et al.

200881 citations