Hatice Karasoy

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

Çiğdem Köroğlu, Leyla Baysal-Kıraç, Murat Çetinkaya et al. · Parkinsonism & Related Disorders · 2012 · 191 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 137 citations · Full text

Medicine, Genetics, Neurology +17

An Integrated Diagnosis Strategy for Congenital Myopathies

Johann Böhm, Nasim Vasli, Edoardo Malfatti et al. · PLoS ONE · 2013 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy

Nur Yüceyar, Özgecan Ayhan, Hatice Karasoy et al. · Neuromuscular Disorders · 2015 · 33 citations

Medicine, Genetics, Molecular Genetics +9

Genotype–phenotype correlation in seven motor neuron disease families with novel <scp><i>ALS2</i></scp> mutations

Rosanne Sprute, Hannah Jergas, Akgün Ölmez et al. · American Journal of Medical Genetics Part A · 2020 · 30 citations · Full text

Life Sciences, Genetics, Neurology +17