| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Acknowledgement to Referees 2015/2016
|
|
|
2016
|
17 |
4 |
p. 271
|
article
|
| 2 |
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease
|
La Cognata, Valentina
|
|
2016
|
17 |
4 |
p. 233-244
|
article
|
| 3 |
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
|
Edvardson, Simon
|
|
2016
|
17 |
4 |
p. 219-225
|
article
|
| 4 |
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
|
Mestre, Tiago A.
|
|
2016
|
17 |
4 |
p. 245-249
|
article
|
| 5 |
Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomy
|
Gallek, Matthew J.
|
|
2016
|
17 |
4 |
p. 211-218
|
article
|
| 6 |
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
|
Kumar, Kishore R
|
|
2016
|
17 |
4 |
p. 265-270
|
article
|
| 7 |
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
|
Martín-Hernández, Elena
|
|
2016
|
17 |
4 |
p. 259-263
|
article
|
| 8 |
PARP10 deficiency manifests by severe developmental delay and DNA repair defect
|
Shahrour, Maher Awni
|
|
2016
|
17 |
4 |
p. 227-232
|
article
|
| 9 |
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
|
Cohen, Rony
|
|
2016
|
17 |
4 |
p. 251-257
|
article
|
| 10 |
Transcriptional regulation of long-term potentiation
|
Bliim, Nicola
|
|
2016
|
17 |
4 |
p. 201-210
|
article
|
Journal description