Detalhe da pesquisa
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
2.
Urgent computed tomography angiography in paediatric stroke.
Dev Med Child Neurol
; 65(1): 126-135, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661998
3.
Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen.
J Physiol
; 600(1): 95-109, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783018
4.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
5.
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Hum Mol Genet
; 25(14): 3042-3054, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270415
6.
Multimodal quantitative examination of nerve function in colorectal cancer patients prior to chemotherapy.
Muscle Nerve
; 57(4): 615-621, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881477
7.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740
8.
Pneumatosis intestinalis and recurrent intussusception in a patient on long-term corticosteroids.
J Paediatr Child Health
; 58(8): 1462-1464, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34914152
9.
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Mol Genet Metab
; 116(3): 178-86, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26318253
10.
Prospective assessment of vincristine-induced peripheral neuropathy in paediatric acute lymphoblastic leukemia.
Clin Neurophysiol
; 154: 157-168, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633123
11.
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Pediatr Neurol
; 149: 75-83, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37806042
12.
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
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.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Neurology
; 96(13): e1770-e1782, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568551
15.
Peripheral nerve maturation and excitability properties from early childhood: Comparison of motor and sensory nerves.
Clin Neurophysiol
; 131(10): 2452-2459, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829292
16.
The provision of written information and its effect on levels of pain and anxiety during electrodiagnostic studies: A randomised controlled trial.
PLoS One
; 13(5): e0196917, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758078
17.
Chemotherapy-Induced Peripheral Neuropathy in Long-term Survivors of Childhood Cancer: Clinical, Neurophysiological, Functional, and Patient-Reported Outcomes.
JAMA Neurol
; 75(8): 980-988, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29799906
18.
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Mol Genet Genomic Med
; 6(2): 186-199, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314763
19.
Neurophysiological and clinical outcomes in chemotherapy-induced neuropathy in cancer.
Clin Neurophysiol
; 128(7): 1166-1175, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28511129
20.
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Cell Rep
; 21(4): 926-933, 2017 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069600