| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
|
Guen, Tangui Le
|
|
2010
|
12 |
1 |
p. 1-8
|
artikel
|
| 2 |
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis
|
Wang, Yu-Liang
|
|
2010
|
12 |
1 |
p. 93-95
|
artikel
|
| 3 |
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22
|
Chouery, Eliane
|
|
2010
|
12 |
1 |
p. 73-78
|
artikel
|
| 4 |
Confirmed association between monoamine oxidase A molecular polymorphisms and Sudden Infant Death Syndrome
|
Filonzi, Laura
|
|
2010
|
12 |
1 |
p. 91-92
|
artikel
|
| 5 |
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3
|
Schleider, Elisa
|
|
2010
|
12 |
1 |
p. 83-86
|
artikel
|
| 6 |
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
|
Schuster, Jens
|
|
2011
|
12 |
1 |
p. 65-72
|
artikel
|
| 7 |
Hydroxyurea enhances SMN2 gene expression through nitric oxide release
|
Xu, Cheng
|
|
2010
|
12 |
1 |
p. 19-24
|
artikel
|
| 8 |
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
|
Matsukawa, Takashi
|
|
2010
|
12 |
1 |
p. 41-50
|
artikel
|
| 9 |
Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement
|
Choi, Byung-Ok
|
|
2010
|
12 |
1 |
p. 51-58
|
artikel
|
| 10 |
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
|
Santoro, Lucio
|
|
2010
|
12 |
1 |
p. 33-39
|
artikel
|
| 11 |
OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users
|
Becker, Matthijs L.
|
|
2010
|
12 |
1 |
p. 79-82
|
artikel
|
| 12 |
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family
|
Miura, Shiroh
|
|
2010
|
12 |
1 |
p. 25-31
|
artikel
|
| 13 |
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
|
Ferreira, Mariana
|
|
2010
|
12 |
1 |
p. 9-17
|
artikel
|
| 14 |
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
|
Clot, Fabienne
|
|
2010
|
12 |
1 |
p. 87-89
|
artikel
|
| 15 |
The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant
|
McCarthy, Jeanette J.
|
|
2010
|
12 |
1 |
p. 59-64
|
artikel
|
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