Detalhe da pesquisa
1.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1073-81, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176823
2.
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
Clin Chem
; 61(1): 154-62, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274553
3.
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
Eur J Hum Genet
; 21(11): 1312-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23443022