Proukakis C

Title : Genetic and phenotypic characterization of complex hereditary spastic paraplegia - Kara_2016_Brain_139_1904

Author(s) : Kara E , Tucci A , Manzoni C , Lynch DS , Elpidorou M , Bettencourt C , Chelban V , Manole A , Hamed SA , Haridy NA , Federoff M , Preza E , Hughes D , Pittman A , Jaunmuktane Z , Brandner S , Xiromerisiou G , Wiethoff S , Schottlaender L , Proukakis C , Morris H , Warner T , Bhatia KP , Korlipara LV , Singleton AB , Hardy J , Wood NW , Lewis PA , Houlden H

Ref : Brain , 139 :1904 , 2016

Abstract :

PubMedSearch : Kara_2016_Brain_139_1904

PubMedID: 27217339

Title : Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147

Author(s) : Simpson MA , Cross H , Proukakis C , Pryde A , Hershberger R , Chatonnet A , Patton MA , Crosby AH

Ref : American Journal of Human Genetics , 73 :1147 , 2003

Abstract :

PubMedSearch : Simpson_2003_Am.J.Hum.Genet_73_1147

PubMedID: 14564668

Gene_locus related to this paper: human-SPG21

Proukakis C

References (2)

1. Genetic and phenotypic characterization of complex hereditary spastic paraplegia - Kara_2016_Brain_139_1904

2. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia - Simpson_2003_Am.J.Hum.Genet_73_1147