nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Abnormal cortical responses elicited by audiovisual movies in patients with autism spectrum disorder with atypical sensory behavior: A magnetoencephalographic study
|
Matsuzaki, Junko |
|
|
44 |
2 |
p. 81-94 |
artikel |
2 |
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
|
Chan, Denise L. |
|
|
44 |
2 |
p. 142-147 |
artikel |
3 |
Ankle contractures and functional motor decline in Duchenne muscular dystrophy
|
Woof, Angelina L. |
|
|
44 |
2 |
p. 105-113 |
artikel |
4 |
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay
|
Fukumura, Shinobu |
|
|
44 |
2 |
p. 178-183 |
artikel |
5 |
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome
|
Kamate, Mahesh |
|
|
44 |
2 |
p. 139-141 |
artikel |
6 |
Association of O blood type with the prognosis of acute necrotizing encephalopathy in childhood: A single-center cohort study
|
Wang, Yeqing |
|
|
44 |
2 |
p. 131-138 |
artikel |
7 |
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy
|
Jones, Hannah F. |
|
|
44 |
2 |
p. 153-160 |
artikel |
8 |
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
|
Matsushita, Hiroko Baber |
|
|
44 |
2 |
p. 161-165 |
artikel |
9 |
Contents
|
|
|
|
44 |
2 |
p. OBC |
artikel |
10 |
Cover
|
|
|
|
44 |
2 |
p. IBC |
artikel |
11 |
Editorial Board
|
|
|
|
44 |
2 |
p. IFC |
artikel |
12 |
Involuntary movements as a prognostic factor for acute encephalopathy with biphasic seizures and late reduced diffusion
|
Miyamoto, Yosuke |
|
|
44 |
2 |
p. 122-130 |
artikel |
13 |
Polymicrogyria in a child with KCNMA1-related channelopathy
|
Graber, Denis |
|
|
44 |
2 |
p. 173-177 |
artikel |
14 |
Relationship between trunk muscle strength, reaching ability and balance in children with Down syndrome – A cross-sectional study
|
Jain, Preyal D. |
|
|
44 |
2 |
p. 95-104 |
artikel |
15 |
Serum matrix metallopeptidase-9 and tissue inhibitor of metalloproteinase-1 levels may predict response to adrenocorticotropic hormone therapy in patients with infantile spasms
|
Matsuura, Ryuki |
|
|
44 |
2 |
p. 114-121 |
artikel |
16 |
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia
|
Jha, Ruchika |
|
|
44 |
2 |
p. 166-172 |
artikel |
17 |
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis
|
Ozenen, Gizem Guner |
|
|
44 |
2 |
p. 184-188 |
artikel |
18 |
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation
|
Kirikae, Hinako |
|
|
44 |
2 |
p. 148-152 |
artikel |