| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease
|
Hetmańczyk-Sawicka, Katarzyna
|
|
|
21 |
2 |
p. 105-119
|
artikel
|
| 2 |
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams
|
Peiwei Zhao,
|
|
|
21 |
2 |
p. 97-104
|
artikel
|
| 3 |
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
|
Ticci, Chiara
|
|
|
21 |
2 |
p. 87-96
|
artikel
|
| 4 |
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
|
Morin, Matias
|
|
|
21 |
2 |
p. 135-143
|
artikel
|
| 5 |
Of cognition and cerebellum in SCA48
|
De Michele, Giovanna
|
|
|
21 |
2 |
p. 145-146
|
artikel
|
| 6 |
POLR3A variants with striatal involvement and extrapyramidal movement disorder
|
Harting, Inga
|
|
|
21 |
2 |
p. 121-133
|
artikel
|
| 7 |
Reply to letter to the editor by De Michele et al
|
Basak, A. Nazli
|
|
|
21 |
2 |
p. 147
|
artikel
|
| 8 |
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
|
Lin, Shan
|
|
|
21 |
2 |
p. 79-86
|
artikel
|
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