NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference17 articles.
1. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons;Chai;Am J Hum Genet,2003
2. Hereditary spastic paraplegia;Fink,2001
3. Hereditary spastic paraplegia: the pace quickens;Fink;Ann Neurol,2002
4. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation;Fink;Semin Neurol,1999
5. Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family;Fink;Neurology,1995
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