nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
ACTH therapy on intractable epilepsy in Hemiconvulsion–Hemiplegia–Epilepsy syndrome
|
Shimakawa, Shuichi |
|
2015 |
37 |
7 |
p. 733-737 5 p. |
artikel |
2 |
A nationwide survey of opsoclonus–myoclonus syndrome in Japanese children
|
Hasegawa, Shunji |
|
2015 |
37 |
7 |
p. 656-660 5 p. |
artikel |
3 |
Announcements and reports
|
|
|
2015 |
37 |
7 |
p. I-IV nvt p. |
artikel |
4 |
Auditory agnosia as a clinical symptom of childhood adrenoleukodystrophy
|
Furushima, Wakana |
|
2015 |
37 |
7 |
p. 690-697 8 p. |
artikel |
5 |
Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
|
Vatanavicharn, Nithiwat |
|
2015 |
37 |
7 |
p. 698-703 6 p. |
artikel |
6 |
Contents
|
|
|
2015 |
37 |
7 |
p. OBC- 1 p. |
artikel |
7 |
Cover
|
|
|
2015 |
37 |
7 |
p. IBC- 1 p. |
artikel |
8 |
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1
|
Okumura, Akiko |
|
2015 |
37 |
7 |
p. 677-689 13 p. |
artikel |
9 |
Editorial Board
|
|
|
2015 |
37 |
7 |
p. IFC- 1 p. |
artikel |
10 |
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study
|
Spagnoli, Carlotta |
|
2015 |
37 |
7 |
p. 704-713 10 p. |
artikel |
11 |
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34
|
Mimaki, Masakazu |
|
2015 |
37 |
7 |
p. 714-718 5 p. |
artikel |
12 |
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report
|
Montassir, Hesham |
|
2015 |
37 |
7 |
p. 719-724 6 p. |
artikel |
13 |
Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts
|
Takarada, Toru |
|
2015 |
37 |
7 |
p. 661-668 8 p. |
artikel |
14 |
Rub epilepsy in an infant with Turner syndrome
|
Magara, Shin-ichi |
|
2015 |
37 |
7 |
p. 725-728 4 p. |
artikel |
15 |
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet
|
Wong, Virginia C.N. |
|
2015 |
37 |
7 |
p. 729-732 4 p. |
artikel |
16 |
Tourette Syndrome: Update
|
Hallett, Mark |
|
2015 |
37 |
7 |
p. 651-655 5 p. |
artikel |
17 |
Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA
|
Harahap, Nur Imma Fatimah |
|
2015 |
37 |
7 |
p. 669-676 8 p. |
artikel |