G.O.3 Mutations in contactin-1, a neuronal cell adhesion molecule expressed at the neuromuscular junction, cause a novel form of congenital lethal myopathy
Alison G. Compton(Royal Children's Hospital), Kathryn N. North(The University of Melbourne), Jane T. Seto(The University of Sydney), David Mowat(UNSW Sydney), Barbara Ranscht(Sanford Burnham Prebys Medical Discovery Institute), Melanie Bahlo(Walter and Eliza Hall Institute of Medical Research), Nan Yang(Tianjin University of Traditional Chinese Medicine), K. Jones(Children's Hospital at Westmead), Sandra T. Cooper(Children's Medical Research Institute), Stanley C. Froehner(University of Washington), Douglas E. Albrecht(University of Washington)
Cited by 0
Related Papers
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
|Pediatric Neurology|2013|1.5k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
|Pediatric Neurology|2013|863
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809