Detalhe da pesquisa
1.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
J Med Genet
; 59(3): 262-269, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397746
2.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
3.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
4.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Am J Med Genet A
; 188(10): 2920-2931, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869874
5.
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
J Med Genet
; 58(7): 475-483, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737135
6.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743164
7.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Int J Mol Sci
; 23(15)2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955418
8.
CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.
J Headache Pain
; 22(1): 85, 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320921
9.
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Clin Genet
; 97(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705535
10.
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Int J Mol Sci
; 21(10)2020 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443735
11.
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.
Hum Mol Genet
; 26(14): 2781-2790, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472288
12.
Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.
Ann Neurol
; 93(5): 1041-1043, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892079
13.
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Neurogenetics
; 19(2): 111-121, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691679
14.
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Cerebellum
; 17(4): 489-493, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397530
15.
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Brain
; 140(10): 2550-2556, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969374
16.
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
BMC Med Genet
; 16: 53, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204956
17.
Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.
Cancer Cell
; 12(5): 457-66, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17996649
18.
Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression.
Blood
; 119(17): 4034-46, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22327224
19.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Brain
; 136(Pt 3): 872-81, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423674
20.
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
Eur J Pediatr
; 173(12): 1735-40, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367056