Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
2.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
3.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
4.
BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
Mov Disord
; 37(4): 870-872, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981858
5.
Steroid-responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies.
J Paediatr Child Health
; 58(12): 2322-2326, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000565
6.
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Dev Med Child Neurol
; 58(6): 639-44, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26814174
7.
Hypnogely: A case report.
J Paediatr Child Health
; 57(9): 1498-1499, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33030776
8.
A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.
Doc Ophthalmol
; 131(3): 215-20, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26396085
9.
Mechanical Thrombectomy for Pediatric Arterial Ischemic Stroke from Acute M2 Occlusion.
AJNR Am J Neuroradiol
; 45(5): 588-591, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38548309
10.
Echovirus 19 associated with a case of acute flaccid paralysis.
J Paediatr Child Health
; 49(3): E239-42, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23252472
11.
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes.
Ann Clin Transl Neurol
; 10(8): 1417-1432, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340737
12.
Association Between Thrombectomy and Functional Outcomes in Pediatric Patients With Acute Ischemic Stroke From Large Vessel Occlusion.
JAMA Neurol
; 80(9): 910-918, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486670
13.
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.
EBioMedicine
; 91: 104589, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119734
14.
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.
JIMD Rep
; 63(6): 546-554, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341169
15.
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Brain Dev
; 44(2): 153-160, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702576
16.
Incidence and Natural History of Pediatric Large Vessel Occlusion Stroke: A Population Study.
JAMA Neurol
; 79(5): 488-497, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344005
17.
Predictors of longitudinal seizure outcomes after epilepsy surgery in childhood.
Epilepsy Behav Rep
; 19: 100561, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899185
18.
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.
EBioMedicine
; 84: 104280, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36174397
19.
Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies.
Dev Med Child Neurol
; 53(11): 1058-60, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883173
20.
A prospective study of acute movement disorders in children.
Dev Med Child Neurol
; 52(8): 739-48, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20163436