| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to Referees 2012/2013
|
|
|
2013
|
14 |
3-4 |
p. 259
|
artikel
|
| 2 |
A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome
|
Shaheen, Ranad
|
|
2013
|
14 |
3-4 |
p. 243-245
|
artikel
|
| 3 |
Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort
|
Yoon, G.
|
|
2013
|
14 |
3-4 |
p. 181-188
|
artikel
|
| 4 |
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome
|
Weber, Axel
|
|
2013
|
14 |
3-4 |
p. 251-253
|
artikel
|
| 5 |
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation
|
Vito, L. Di
|
|
2013
|
14 |
3-4 |
p. 255-256
|
artikel
|
| 6 |
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset
|
Ramos, Eliana Marisa
|
|
2013
|
14 |
3-4 |
p. 173-179
|
artikel
|
| 7 |
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature
|
Bertelsen, Birgitte
|
|
2013
|
14 |
3-4 |
p. 197-203
|
artikel
|
| 8 |
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
|
Ohba, Chihiro
|
|
2013
|
14 |
3-4 |
p. 225-232
|
artikel
|
| 9 |
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
|
Zanni, Ginevra
|
|
2013
|
14 |
3-4 |
p. 247-250
|
artikel
|
| 10 |
Genetic modifiers in Huntington’s disease: fiction or fact?
|
Arning, Larissa
|
|
2013
|
14 |
3-4 |
p. 171-172
|
artikel
|
| 11 |
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
|
Geis, Tobias
|
|
2013
|
14 |
3-4 |
p. 205-213
|
artikel
|
| 12 |
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria
|
Valence, Stéphanie
|
|
2013
|
14 |
3-4 |
p. 215-224
|
artikel
|
| 13 |
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
|
Borgulová, I.
|
|
2013
|
14 |
3-4 |
p. 189-195
|
artikel
|
| 14 |
Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans
|
Izquierdo, Patricia G.
|
|
2013
|
14 |
3-4 |
p. 233-242
|
artikel
|
| 15 |
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
|
Duarri, Anna
|
|
2013
|
14 |
3-4 |
p. 257-258
|
artikel
|
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