Detalhe da pesquisa
1.
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
Hum Mol Genet
; 23(25): 6746-61, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25080502
2.
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
Ann Neurol
; 73(3): 433-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483640
3.
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Biochim Biophys Acta
; 1812(7): 782-90, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21497194
4.
Genetic association and altered gene expression of mir-155 in multiple sclerosis patients.
Int J Mol Sci
; 12(12): 8695-712, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22272099
5.
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture.
Front Genet
; 12: 743230, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34646309
6.
Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease.
Sci Rep
; 11(1): 21070, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702906
7.
Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy.
Neurol Sci
; 31(3): 299-306, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20300794
8.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Sci Rep
; 9(1): 17684, 2019 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776384
9.
Atypical presentation of thalamic post-stroke pain.
Neurol Sci
; 34(6): 1015-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829133
10.
Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era.
Ann Thorac Surg
; 102(1): e23-5, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27343522
11.
FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.
Clin Kidney J
; 9(5): 739-47, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27679722
12.
Vascular dementia in a population-based autopsy study.
Arch Neurol
; 60(4): 569-75, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707071
13.
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.
J Neuroimmunol
; 140(1-2): 216-21, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12864992
14.
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Neurosci Lett
; 371(2-3): 158-62, 2004 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-15519748
15.
Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.
Mol Genet Metab Rep
; 1: 269-272, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896099
16.
Anti-N-methyl-d-aspartate receptor encephalitis causing a prolonged depressive disorder evolving to inflammatory brain disease.
Case Rep Neurol
; 6(1): 38-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24707266
17.
Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis.
Neurology
; 91(2): e187-e188, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987186
18.
Unusual renal presentation of Fabry disease in a female patient.
Nat Rev Nephrol
; 5(6): 349-54, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19399018