Detalhe da pesquisa
1.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Hum Genet
; 142(8): 1055-1076, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199746
2.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
Hum Mutat
; 42(1): 102-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252173
3.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389403
4.
Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.
Am J Med Genet A
; 170A(2): 329-336, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26473304
5.
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia.
Neurobiol Dis
; 81: 162-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882094
6.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC Med Genet
; 16: 16, 2015 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927548
7.
Efficient wastewater sample filtration improves the detection of SARS-CoV-2 variants: An extensive analysis based on sequencing parameters.
PLoS One
; 19(5): e0304158, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787865
8.
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
J Neurol Neurosurg Psychiatry
; 88(10): 894-896, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28473625
9.
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study.
Neurobiol Pain
; 11: 100089, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445161
10.
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Sci Rep
; 10(1): 20182, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214630
11.
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.
Am J Obstet Gynecol
; 200(6): 636.e1-6, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19254790
12.
Identifying the causes of stillbirth: a comparison of four classification systems.
Am J Obstet Gynecol
; 199(3): 319.e1-4, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18771999
13.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
J Mol Diagn
; 20(3): 289-297, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462666
14.
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Eur J Paediatr Neurol
; 21(3): 475-484, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027854
15.
Adverse Perinatal Outcome in Subsequent Pregnancy after Stillbirth by Placental Vascular Disorders.
PLoS One
; 11(5): e0155761, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27228078
16.
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.
J Neurol
; 263(11): 2170-2178, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27488863
17.
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
Eur J Hum Genet
; 21(7): 774-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23211698
18.
Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes.
Eur J Obstet Gynecol Reprod Biol
; 170(1): 131-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830966
19.
Risk assessment for Down syndrome with genetic sonogram in women at risk.
Prenat Diagn
; 28(12): 1144-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006200
20.
Preterm twins: what threshold of birth weight discordance heralds major adverse neonatal outcome?
Am J Obstet Gynecol
; 191(4): 1441-5, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15507980