Detalhe da pesquisa
1.
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain
; 138(Pt 9): 2521-36, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26179919
2.
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Neurology
; 84(7): 659-67, 2015 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-25609768
3.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Eur J Hum Genet
; 20(6): 645-9, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22258533