| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to Referees 2006/2007
|
|
|
2007
|
8 |
4 |
p. 319
|
artikel
|
| 2 |
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
|
Beetz, Christian
|
|
|
8 |
4 |
p. 317-318
|
artikel
|
| 3 |
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
|
Beetz, Christian
|
|
2007
|
8 |
4 |
p. 317-318
|
artikel
|
| 4 |
CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations
|
Voss, Katrin
|
|
2007
|
8 |
4 |
p. 249-256
|
artikel
|
| 5 |
Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history
|
Rosen, Ami R.
|
|
2007
|
8 |
4 |
p. 263-270
|
artikel
|
| 6 |
Evidence of shared risk for Alzheimer’s disease and Parkinson’s disease using family history
|
Rosen, Ami R.
|
|
|
8 |
4 |
p. 263-270
|
artikel
|
| 7 |
Frataxin gene point mutations in Italian Friedreich ataxia patients
|
Gellera, Cinzia
|
|
2007
|
8 |
4 |
p. 289-299
|
artikel
|
| 8 |
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
|
Szigeti, Kinga
|
|
2007
|
8 |
4 |
p. 257-262
|
artikel
|
| 9 |
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease
|
Hehr, Ute
|
|
2007
|
8 |
4 |
p. 279-288
|
artikel
|
| 10 |
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
|
Elleuch, Nizar
|
|
|
8 |
4 |
p. 307-315
|
artikel
|
| 11 |
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
|
Elleuch, Nizar
|
|
2007
|
8 |
4 |
p. 307-315
|
artikel
|
| 12 |
Robust quantification of the SMN gene copy number by real-time TaqMan PCR
|
Gómez-Curet, Ilsa
|
|
2007
|
8 |
4 |
p. 271-278
|
artikel
|
| 13 |
SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation
|
Bo, Roberto Del
|
|
2007
|
8 |
4 |
p. 301-305
|
artikel
|
| 14 |
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments
|
Mackenzie, Ian R. A.
|
|
2007
|
8 |
4 |
p. 237-248
|
artikel
|
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