Detalhe da pesquisa
1.
α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies.
Hum Mol Genet
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38692286
2.
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
Hum Mol Genet
; 30(14): 1337-1348, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961044
3.
Low-grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.
Pediatr Int
; 63(11): 1327-1333, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33706425
4.
A 5-Year Follow-Up of Triple-Seronegative Myasthenia Gravis Successfully Treated with Tacrolimus Therapy.
Neuropediatrics
; 49(3): 200-203, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29301152
5.
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.
Hum Genome Var
; 11(1): 9, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409073
6.
Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Neuroscience
; 524: 256-268, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315734
7.
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
Hum Genome Var
; 10(1): 23, 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604814
8.
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
Hum Genome Var
; 9(1): 18, 2022 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665751
9.
Quantitative pretreatment EEG predicts efficacy of ACTH therapy in infantile epileptic spasms syndrome.
Clin Neurophysiol
; 144: 83-90, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327598
10.
Development of corpus callosum in preterm infants is affected by the prematurity: in vivo assessment of diffusion tensor imaging at term-equivalent age.
Pediatr Res
; 69(3): 249-54, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21131895
11.
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
Hum Genome Var
; 8(1): 4, 2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500398
12.
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Brain Dev
; 43(2): 294-302, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33036822
13.
Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
Brain Dev
; 43(7): 745-758, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892995
14.
Organ distribution of quantum dots after intraperitoneal administration, with special reference to area-specific distribution in the brain.
Nanotechnology
; 21(33): 335103, 2010 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660952
15.
Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid.
Brain Dev
; 42(3): 311-314, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31889567
16.
A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.
Neurosci Lett
; 739: 135449, 2020 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115644
17.
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185â¯Tâ¯>â¯C variant in the MT-ATP6 gene: Expanding the clinical spectrum.
Brain Dev
; 42(1): 69-72, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31500933
18.
Cerebellar peduncle injury predicts motor impairments in preterm infants: A quantitative tractography study at term-equivalent age.
Brain Dev
; 40(9): 743-752, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29776704
19.
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.
Child Neurol Open
; 3: 2329048X16665012, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503612
20.
The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain.
Mol Neurobiol
; 45(2): 287-97, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258561