| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
|
Kashani, Alireza
|
|
2014
|
15 |
3 |
p. 161-164
|
artikel
|
| 2 |
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
|
Armstrong, L.
|
|
2014
|
15 |
3 |
p. 157-159
|
artikel
|
| 3 |
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient
|
Kassardjian, Charles D.
|
|
2014
|
15 |
3 |
p. 213-214
|
artikel
|
| 4 |
Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression
|
Traboulsee, Anthony L.
|
|
2014
|
15 |
3 |
p. 165-169
|
artikel
|
| 5 |
‘Neuroinflammation’ differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases compared
|
Filiou, Michaela D.
|
|
2014
|
15 |
3 |
p. 201-212
|
artikel
|
| 6 |
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
|
Nakashima, Mitsuko
|
|
2014
|
15 |
3 |
p. 193-200
|
artikel
|
| 7 |
Novel recessive myotilin mutation causes severe myofibrillar myopathy
|
Schessl, Joachim
|
|
2014
|
15 |
3 |
p. 151-156
|
artikel
|
| 8 |
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification
|
Nicolas, Gaël
|
|
2014
|
15 |
3 |
p. 215-216
|
artikel
|
| 9 |
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
|
Olgiati, Simone
|
|
2014
|
15 |
3 |
p. 183-188
|
artikel
|
| 10 |
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
|
Park, Mi-Hyun
|
|
2014
|
15 |
3 |
p. 171-182
|
artikel
|
| 11 |
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome
|
Lahut, Suna
|
|
2014
|
15 |
3 |
p. 189-192
|
artikel
|
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