Studies
Next Generation Mendelian Genetics: Hereditary Neurological Disorders
Next Generation Mendelian Genetics: Hereditary Neurological Disorders
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Overview
Selected Publications (3)
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Dong-Hui Chen, J. Below, A. Shimamura, et al.. (2016). American journal of human genetics. Cited 155 times.
https://doi.org/10.1016/j.ajhg.2016.04.009
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Olena Korvatska, Nicholas S. Strand, J. Berndt, et al.. (2013). Human molecular genetics. Cited 136 times.
https://doi.org/10.1093/hmg/ddt180
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Ying-Zhang Chen, M. Matsushita, P. Robertson, et al.. (2012). Archives of neurology. Cited 115 times.
https://doi.org/10.1001/archneurol.2012.54
