Piraye Oflazer

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine L. Bladen, Karen Rafferty, Volker Straub et al. · Human Mutation · 2013 · 103 citations

Rare Diseases, Dmd Registries, Duchenne Muscular Dystrophy +14

Oculopharyngodistal myopathy is a distinct entity

Hacer Durmuş, Steven H. Laval, Feza Deymeer et al. · Neurology · 2011 · 84 citations

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

Rudolf A. Kley, Piraye Oflazer, Yvonne Leber et al. · Brain · 2012 · 83 citations · Full text

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz et al. · Neuromuscular Disorders · 2014 · 81 citations · Full text

Novel Gene, Genetic Disorder, Genetics +6

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

Yeşerin Yıldırım, Elif Kocasoy Orhan, Piraye Oflazer et al. · Human Molecular Genetics · 2011 · 68 citations · Full text

Motor Dysfunction, Genetics, Disease Gene +18