A recurrent homozygous missense <scp><i>DPM3</i></scp> variant leads to muscle and brain disease
Sara Nagy(University of Basel), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Amir Bahreini(University of Pittsburgh), Bobby G. Ng(Sanford Burnham Prebys Medical Discovery Institute), Nirmala D. Sirisena(University of Colombo), Vajira H. W. Dissanayake(University of Colombo), Miriam Schmidts(University Medical Center Freiburg), Omid Yaghini(Isfahan University of Medical Sciences), Tracy Lau(National Hospital for Neurology and Neurosurgery), Jalal Vallian(Isfahan University of Technology), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Javad Akhondian(Mashhad University of Medical Sciences), Ehsan Ghayoor Karimiani(St George's, University of London), Andrés Moreno-De-Luca(Autism & Developmental Medicine Institute), Henry Houlden(University College London), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Samaneh Noroozi Asl(Mashhad University of Medical Sciences), Prech Uapinyoying(National Institutes of Health), Hudson H. Freeze(Sanford Burnham Prebys Medical Discovery Institute)
Cited by 8
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Symbol Nomenclature for Graphical Representations of Glycans
|Glycobiology|2015|1.1k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809
Updates to the Symbol Nomenclature for Glycans guidelines
|Glycobiology|2019|478