Detalhe da pesquisa
1.
Feasibility and usefulness of rapid 2-channel-EEG-monitoring (point-of-care EEG) for acute CNS disorders in the paediatric emergency department: an observational study.
Emerg Med J
; 38(12): 919-922, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127740
2.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
3.
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Am J Med Genet A
; 164A(5): 1277-83, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664804
4.
Co-occurring malformations of cortical development and SCN1A gene mutations.
Epilepsia
; 55(7): 1009-19, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24902755
5.
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Am J Med Genet A
; 161A(8): 1853-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794250
6.
Resuscitation of a Patient With an Implanted Electronic Device.
Ann Emerg Med
; 71(4): 467-469, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566888
7.
Basilar artery stroke in childhood.
Dev Med Child Neurol
; 55(1): 65-70, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23163838
8.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118815
9.
Attention-deficit/hyperactivity disorder in childhood epilepsy: a neuropsychological and functional imaging study.
Epilepsia
; 53(2): 325-33, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242637
10.
Prenatal Brainstem Disruptions: Small Lesions-Big Problems.
Neuropediatrics
; 48(5): 350-355, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28571098
11.
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Am J Med Genet A
; 155A(10): 2397-408, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043478
12.
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Int J Neonatal Screen
; 8(1)2021 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076458
13.
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Int J Neonatal Screen
; 7(2)2021 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207159
14.
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Neurol Genet
; 7(2): e559, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977142
15.
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
Epilepsia
; 51(9): 1915-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20738378
16.
Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies.
Dev Med Child Neurol
; 52(11): 1033-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20477838
17.
Cerebral sinus venous thrombosis in Swiss children.
Dev Med Child Neurol
; 52(12): 1145-50, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20573178
18.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
19.
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.
Eur J Paediatr Neurol
; 11(3): 146-52, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17320436
20.
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Eur J Med Genet
; 60(6): 345-351, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412374