| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to Referees 2010/2011
|
|
|
2011
|
12 |
4 |
p. 347-348
|
artikel
|
| 2 |
A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype
|
Evans-Galea, Marguerite V.
|
|
2011
|
12 |
4 |
p. 307-313
|
artikel
|
| 3 |
A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
|
Alazami, Anas M.
|
|
2011
|
12 |
4 |
p. 333-336
|
artikel
|
| 4 |
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
|
Elfferich, Peter
|
|
2011
|
12 |
4 |
p. 263-271
|
artikel
|
| 5 |
Genetic variability in SNCA and Parkinson’s disease
|
Pihlstrøm, Lasse
|
|
2011
|
12 |
4 |
p. 283-293
|
artikel
|
| 6 |
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease
|
Gan-Or, Ziv
|
|
2011
|
12 |
4 |
p. 325-332
|
artikel
|
| 7 |
Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy
|
Coto, Eliecer
|
|
2011
|
12 |
4 |
p. 345-346
|
artikel
|
| 8 |
New mutations in the ATM gene and clinical data of 25 AT patients
|
Demuth, Ilja
|
|
2011
|
12 |
4 |
p. 273-282
|
artikel
|
| 9 |
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL)
|
Ragno, Michele
|
|
2011
|
12 |
4 |
p. 337-343
|
artikel
|
| 10 |
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism
|
Daalen, Emma van
|
|
2011
|
12 |
4 |
p. 315-323
|
artikel
|
| 11 |
Up-regulation of metallothionein gene expression in Parkinsonian astrocytes
|
Michael, Gregory J.
|
|
2011
|
12 |
4 |
p. 295-305
|
artikel
|
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