Detalhe da pesquisa
1.
Stability of ten serum tumor markers after one year of storage at -18°C.
Clin Chem Lab Med
; 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353169
2.
Discovering the ANK2-related autism phenotype.
Clin Genet
; 104(3): 384-386, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088467
3.
Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.
Eur J Neurol
; 29(1): 329-334, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541732
4.
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
J Neurol Neurosurg Psychiatry
; 92(9): 942-949, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785574
5.
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Int J Mol Sci
; 21(18)2020 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948071
6.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
J Neurol Neurosurg Psychiatry
; 95(3): 288-290, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041669
7.
Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.
Eur Neurol
; 82(4-6): 106-112, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32018264
8.
Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?
Int J Mol Sci
; 20(16)2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398791
9.
Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?
Cell Mol Life Sci
; 73(20): 3801-8, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510420
10.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
11.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167861
12.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706941
13.
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
J Neurol Neurosurg Psychiatry
; 90(12): 1375-1376, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213485
14.
A new approach to assessing calcium status via a machine learning algorithm.
Clin Chim Acta
; 539: 198-205, 2023 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549640
15.
Genetic variations related to inflammation in suicidal ideation and behavior: A systematic review.
Front Psychiatry
; 13: 1003034, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36325529
16.
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 473-475, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751056
17.
Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 458-461, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668453
18.
Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 470-472, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870541
19.
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia.
BMC Med Genet
; 12: 145, 2011 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22029530
20.
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
NPJ Genom Med
; 6(1): 91, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737294