nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients
|
Calame, Daniel G. |
|
|
31 |
C |
p. 21-26 |
artikel |
2 |
A patient centered view of randomized control trial data: An example with fenfluramine for Dravet syndrome
|
Auvin, Stéphane |
|
|
31 |
C |
p. 104 |
artikel |
3 |
Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder
|
Tang, Yingying |
|
|
31 |
C |
p. 46-53 |
artikel |
4 |
CASK related disorder: Epilepsy and developmental outcome
|
Giacomini, Thea |
|
|
31 |
C |
p. 61-69 |
artikel |
5 |
Commentary on “Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study”
|
Heydari, Kimia |
|
|
31 |
C |
p. 106-107 |
artikel |
6 |
Editorial Board
|
|
|
|
31 |
C |
p. i |
artikel |
7 |
Epidemiology of traumatic brain injury in children 15 years and younger in South-Eastern Norway in 2015–16. Implications for prevention and follow-up needs
|
Dahl, Hilde Margrete |
|
|
31 |
C |
p. 70-77 |
artikel |
8 |
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
|
François-Heude, Marie-Céline |
|
|
31 |
C |
p. 78-87 |
artikel |
9 |
Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study
|
Suppiej, A. |
|
|
31 |
C |
p. 1-9 |
artikel |
10 |
Fenfluramine responder analyses and numbers needed to treat: Translating epilepsy trial data into clinical practice
|
Sullivan, Joseph |
|
|
31 |
C |
p. 10-14 |
artikel |
11 |
Melatonin for neuroprotection in neonatal encephalopathy: A systematic review & meta-analysis of clinical trials
|
Ahmed, Javed |
|
|
31 |
C |
p. 38-45 |
artikel |
12 |
Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
|
Sen, Kuntal |
|
|
31 |
C |
p. 27-30 |
artikel |
13 |
Nusinersen does not improve lung function in a cohort of children with spinal muscular atrophy – A single-center retrospective study
|
Heitschmidt, Laura |
|
|
31 |
C |
p. 88-91 |
artikel |
14 |
Optimizing neonatal outcomes with melatonin - Huge promise but slow progress
|
Pang, Raymand |
|
|
31 |
C |
p. 102-103 |
artikel |
15 |
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
|
Carrera-García, Laura |
|
|
31 |
C |
p. 92-101 |
artikel |
16 |
Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype
|
Polavarapu, Kiran |
|
|
31 |
C |
p. 54-60 |
artikel |
17 |
The phenotypic variability and natural history of NARS2 associated disease
|
Sofou, Kalliopi |
|
|
31 |
C |
p. 31-37 |
artikel |
18 |
Ultrasound estimation of brain volume in preterm infants
|
van Wezel-Meijler, Gerda |
|
|
31 |
C |
p. 105 |
artikel |
19 |
Uncomplicated intraventricular hemorrhage is not associated with lower estimated cerebral volume at term age
|
Graça, André M. |
|
|
31 |
C |
p. 15-20 |
artikel |