Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
3.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
4.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Genet Med
; 26(5): 101097, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334070
5.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
6.
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Am J Med Genet A
; 194(6): e63534, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318947
7.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Epilepsia
; 65(4): 1072-1091, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411286
8.
Use of gadolinium-based contrast agents in multiple sclerosis: a review by the ESMRMB-GREC and ESNR Multiple Sclerosis Working Group.
Eur Radiol
; 34(3): 1726-1735, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658891
9.
Vein of Galen aneurysmal malformation: does size affect outcome?
Neuroradiology
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607438
10.
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
Pediatr Nephrol
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376554
11.
Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.
Childs Nerv Syst
; 40(6): 1731-1741, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316674
12.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
13.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
14.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
15.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
16.
Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male fetuses.
Eur Radiol
; 33(3): 2258-2265, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264312
17.
Multiple sclerosis imaging in clinical practice: a European-wide survey of 428 centers and conclusions by the ESNR Working Group.
Eur Radiol
; 33(10): 7025-7033, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37199796
18.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
19.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
20.
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report.
Neuropediatrics
; 54(1): 73-77, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564023