id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_n2dej6g76fhpbiyfvs7sdev7ie	Piya Lahiry	A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder	2013.0		.pdf	text/html	1080	205	60	[PDF] A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder | Semantic Scholar Corpus ID: 9809389A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder title={A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder}, BackgroundTo elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and resultsWe identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting early in life, associated with microcephaly, seizures, and psychomotor retardation; based on this, we named the condition… Expand Identifying The Role Of The Type-Ii Transmembrane Serine Protease Tmprss13 In Breast Cancer By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License	./cache/work_n2dej6g76fhpbiyfvs7sdev7ie.pdf	./txt/work_n2dej6g76fhpbiyfvs7sdev7ie.txt