| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
|
Thust, Steffi
|
|
|
23 |
2 |
p. 91-102
|
article
|
| 2 |
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation
|
Miyamoto, Sachiko
|
|
|
23 |
2 |
p. 129-135
|
article
|
| 3 |
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
|
Iacono, Salvatore
|
|
|
23 |
2 |
p. 157-165
|
article
|
| 4 |
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
|
Chouery, Eliane
|
|
|
23 |
2 |
p. 85-90
|
article
|
| 5 |
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
|
Cheung, Anthony
|
|
|
23 |
2 |
p. 115-127
|
article
|
| 6 |
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
|
Nassir, Nasna
|
|
|
23 |
2 |
p. 137-149
|
article
|
| 7 |
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
|
Ozyilmaz, Berk
|
|
|
23 |
2 |
p. 103-114
|
article
|
| 8 |
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
|
Macintosh, Julia
|
|
|
23 |
2 |
p. 151-156
|
article
|
Journal description