Detalhe da pesquisa
1.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Ann Neurol
; 79(2): 244-56, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26528954
2.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Mov Disord
; 31(7): 1041-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27090768
3.
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Neurogenetics
; 16(1): 55-64, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294124
4.
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Mov Disord
; 30(7): 996-1001, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778823
5.
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Hum Mutat
; 34(9): 1208-15, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804577
6.
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Mov Disord
; 31(5): 765-7, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26990861
7.
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
Parkinsonism Relat Disord
; 39: 64-70, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28347615
8.
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.
Parkinsonism Relat Disord
; 21(8): 981-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077166