Detalhe da pesquisa
1.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Ann Neurol
; 79(4): 646-58, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856398
2.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
3.
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Brain
; 137(Pt 8): 2164-77, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24970096
4.
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model.
PLoS Genet
; 8(11): e1003066, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23209432
5.
Clozapine serum concentrations in dopamimetic psychosis in Parkinson's disease and related disorders.
Eur J Clin Pharmacol
; 70(12): 1471-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323805
6.
Axonal transport deficit in a KIF5A( -/- ) mouse model.
Neurogenetics
; 13(2): 169-79, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466687
7.
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Neurogenetics
; 10(2): 97-104, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18855023
8.
Neurobiological correlates of emotional intelligence in voice and face perception networks.
Soc Cogn Affect Neurosci
; 13(2): 233-244, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365199
9.
DNA methylation signatures of chronic alcohol dependence in purified CD3+ T-cells of patients undergoing alcohol treatment.
Sci Rep
; 7(1): 6605, 2017 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747766
10.
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.
J Neurol
; 262(8): 1961-71, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26050637
11.
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
J Neurol
; 261(12): 2351-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25239393
12.
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Mol Genet Genomic Med
; 2(5): 379-82, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333062
13.
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
Orphanet J Rare Dis
; 8: 158, 2013 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24107482
14.
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Neurology
; 81(23): 2039-44, 2013 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24198292
15.
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Orphanet J Rare Dis
; 8: 41, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23497566
16.
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
J Clin Invest
; 123(10): 4273-82, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24051375