Detalhe da pesquisa
1.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
2.
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.
Clin Endocrinol (Oxf)
; 79(3): 316-20, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23346902
3.
Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Brain
; 138(Pt 2): e325, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149409
4.
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.
Clin Case Rep
; 4(2): 177-81, 2016 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26862418
5.
Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy.
Neurology
; 82(19): 1678-83, 2014 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24719486
6.
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
Pediatr Neurol
; 48(3): 212-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23419472