Detalhe da pesquisa
1.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
2.
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
Mov Disord
; 25(12): 1982-6, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20669277
3.
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Sci Rep
; 10(1): 15093, 2020 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934269
4.
Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic.
Orphanet J Rare Dis
; 13(1): 194, 2018 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390710