Detalhe da pesquisa
1.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32142645
2.
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Am J Hum Genet
; 92(2): 245-51, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332917
3.
Multiple system atrophy: the application of genetics in understanding etiology.
Clin Auton Res
; 25(1): 19-36, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687905
4.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682
5.
Variable presentations of postpartum angiopathy.
Stroke
; 43(3): 670-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22223244
6.
Mutant COQ2 in multiple-system atrophy.
N Engl J Med
; 371(1): 81, 2014 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24988569
7.
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.
PLoS One
; 11(2): e0149557, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26894433
8.
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.
J Neurol Sci
; 348(1-2): 266-8, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25560911
9.
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Neurobiol Aging
; 36(2): 1221.e1-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25308964
10.
White matter relapsing remitting disease: "Susac's syndrome"-An underdiagnosed entity.
Mult Scler Relat Disord
; 2(4): 349-54, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25877845
11.
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
Neurobiol Aging
; 33(8): 1851.e1-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22445326
12.
Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].
Neurobiol Aging
; 36(4): 1768, 2015 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843426
13.
Multiple system atrophy and repeat expansions in C9orf72.
JAMA Neurol
; 71(9): 1190-1, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25200542