Detalhe da pesquisa
1.
Non-vascular intracranial lesions in three children with PHACE association.
Pediatr Dermatol
; 41(2): 284-288, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723596
2.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
3.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441233
4.
Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors.
Am J Pathol
; 188(6): 1334-1344, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545198
5.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Ann Neurol
; 83(6): 1133-1146, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679388
6.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
7.
Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production.
J Neurosci
; 35(12): 4903-16, 2015 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810521
8.
Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.
Development
; 137(16): 2643-52, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20610486
9.
A collaboration between immune cells and the choroid plexus epithelium in brain inflammation.
bioRxiv
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609192
10.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Neurology
; 100(5): e528-e542, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307217
11.
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Nat Genet
; 55(11): 1920-1928, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872450
12.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics
; 13(2): 115-24, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371254
13.
Rapid reversal of uremic neuropathy following renal transplantation in an adolescent.
Pediatr Transplant
; 16(7): E296-300, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22188489
14.
Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development.
Cell Death Differ
; 29(8): 1596-1610, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322202
15.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC Med Genet
; 12: 87, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708040
16.
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
Muscle Nerve
; 41(6): 746-50, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513101
17.
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Mol Genet Genomic Med
; 7(3): e552, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30688039
18.
Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine.
JACC Basic Transl Sci
; 4(2): 176-187, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31061920
19.
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
J Child Neurol
; 23(3): 349-52, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18230843
20.
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
JIMD Rep
; 38: 61-65, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540636