The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 6
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia
Derya Okur 1 ,Hülya Sevcan Daimagüler 2 ,Ayça Ersen Danyeli 3 ,Hasan Tekgül 4 ,Haicui Wang 2 ,Gilbert Wunderlich 5 ,Sebahattin Çırak 2 ,Uluç Yiş 1
1 Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir
2 Department of Pediatrics, University Hospital Cologne and Center for Molecular Medicine Cologne (CMMC), Cologne, Germany
3 Department of Pathology, Acibadem Healthcare Group, İstanbul
4 Department of Pediatrics, Division of Child Neurology, Ege University School of Medicine, İzmir,Turkey
5 Department of Neurology, University Hospital Cologne, Cologne, Germany
DOI : 10.24953/turkjped.2019.06.015 Keywords :
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