| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to Referees 2009/2010
|
|
|
2010
|
11 |
4 |
p. 471
|
artikel
|
| 2 |
Age at onset in Huntington’s disease: replication study on the associations of ADORA2A, HAP1 and OGG1
|
Taherzadeh-Fard, Elahe
|
|
2010
|
11 |
4 |
p. 435-439
|
artikel
|
| 3 |
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
|
Sakai, Haruya
|
|
2010
|
11 |
4 |
p. 409-415
|
artikel
|
| 4 |
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden
|
Thomas, Laura
|
|
2010
|
11 |
4 |
p. 391-400
|
artikel
|
| 5 |
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
|
Boukhris, Amir
|
|
2010
|
11 |
4 |
p. 441-448
|
artikel
|
| 6 |
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
|
Boyden, Steven E.
|
|
2010
|
11 |
4 |
p. 449-455
|
artikel
|
| 7 |
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease
|
Gonzaga-Jauregui, Claudia
|
|
2010
|
11 |
4 |
p. 465-470
|
artikel
|
| 8 |
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
|
Vilariño-Güell, Carles
|
|
2010
|
11 |
4 |
p. 401-408
|
artikel
|
| 9 |
Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy
|
Kim, Hyun Sook
|
|
2010
|
11 |
4 |
p. 425-433
|
artikel
|
| 10 |
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
|
Southgate, Laura
|
|
2010
|
11 |
4 |
p. 379-389
|
artikel
|
| 11 |
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons
|
Soderblom, Cynthia
|
|
2010
|
11 |
4 |
p. 369-378
|
artikel
|
| 12 |
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred
|
Breedveld, Guido J.
|
|
2010
|
11 |
4 |
p. 417-423
|
artikel
|
| 13 |
Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31
|
Bernard, Geneviève
|
|
2010
|
11 |
4 |
p. 457-464
|
artikel
|
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