| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to Referees 2008/2009
|
|
|
2009
|
10 |
4 |
p. 377-378
|
artikel
|
| 2 |
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
|
Erez, Ayelet
|
|
2009
|
10 |
4 |
p. 363-369
|
artikel
|
| 3 |
A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs
|
Ajroud-Driss, S.
|
|
2009
|
10 |
4 |
p. 359-361
|
artikel
|
| 4 |
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
|
Brusse, Esther
|
|
2009
|
10 |
4 |
p. 289-297
|
artikel
|
| 5 |
Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries
|
Bar-Shira, Anat
|
|
2009
|
10 |
4 |
p. 355-358
|
artikel
|
| 6 |
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1
|
Dursun, Umut
|
|
2009
|
10 |
4 |
p. 325-331
|
artikel
|
| 7 |
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
|
Leal, Alejandro
|
|
2009
|
10 |
4 |
p. 375-376
|
artikel
|
| 8 |
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
|
Leal, Alejandro
|
|
2009
|
10 |
4 |
p. 275-287
|
artikel
|
| 9 |
Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain
|
Mata, Ignacio F.
|
|
2009
|
10 |
4 |
p. 347-353
|
artikel
|
| 10 |
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia
|
Wang, Kang
|
|
2009
|
10 |
4 |
p. 337-345
|
artikel
|
| 11 |
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
|
Wit, M. C. Y. de
|
|
2009
|
10 |
4 |
p. 333-336
|
artikel
|
| 12 |
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
|
Aldahmesh, M. A.
|
|
2009
|
10 |
4 |
p. 307-311
|
artikel
|
| 13 |
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
|
Traoré, M.
|
|
2009
|
10 |
4 |
p. 319-323
|
artikel
|
| 14 |
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration
|
Colombo, Roberto
|
|
2009
|
10 |
4 |
p. 313-318
|
artikel
|
| 15 |
SCA27 caused by a chromosome translocation: further delineation of the phenotype
|
Misceo, D.
|
|
2009
|
10 |
4 |
p. 371-374
|
artikel
|
| 16 |
The impact of spermine synthase (SMS) mutations on brain morphology
|
Kesler, Shelli R.
|
|
2009
|
10 |
4 |
p. 299-305
|
artikel
|
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