Detalhe da pesquisa
1.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Hum Mol Genet
; 23(15): 4103-10, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24647604
2.
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Ann Hum Genet
; 73(Pt 3): 382-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344448
3.
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.
Neurogenetics
; 9(3): 225-6, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463901
4.
Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article.
Scoliosis
; 5: 7, 2010 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20374654