nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Acknowledgement to referees 2018/2019
|
|
|
2019 |
20 |
4 |
p. 221 |
artikel |
2 |
Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A
|
Finsterer, Josef |
|
2019 |
20 |
4 |
p. 219-220 |
artikel |
3 |
Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
|
du Toit, Nicola |
|
2019 |
20 |
4 |
p. 215-218 |
artikel |
4 |
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
|
Abu-Libdeh, Bassam |
|
2019 |
20 |
4 |
p. 209-213 |
artikel |
5 |
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
|
Narain, Priyam |
|
2019 |
20 |
4 |
p. 197-208 |
artikel |
6 |
Nervous NDRGs: the N-myc downstream–regulated gene family in the central and peripheral nervous system
|
Schonkeren, Simone L. |
|
2019 |
20 |
4 |
p. 173-186 |
artikel |
7 |
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
|
Hausman-Kedem, Moran |
|
2019 |
20 |
4 |
p. 187-195 |
artikel |