| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia
|
Schüle, Rebecca
|
|
2008
|
10 |
2 |
p. 97-104
|
artikel
|
| 2 |
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss
|
Terracciano, Alessandra
|
|
2008
|
10 |
2 |
p. 151-155
|
artikel
|
| 3 |
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated
|
Hornemann, Thorsten
|
|
2008
|
10 |
2 |
p. 135-143
|
artikel
|
| 4 |
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
|
Coldren, C. D.
|
|
2008
|
10 |
2 |
p. 89-95
|
artikel
|
| 5 |
Comment on the article “Heterogeneous dysregulation of microRNAs across the autism spectrum” by Abu-Elneel et al.
|
Buyske, Steven
|
|
2009
|
10 |
2 |
p. 167
|
artikel
|
| 6 |
Familial risks for amyotrophic lateral sclerosis and autoimmune diseases
|
Hemminki, Kari
|
|
2008
|
10 |
2 |
p. 111-116
|
artikel
|
| 7 |
Gene expression in blood of subjects with Duchenne muscular dystrophy
|
Wong, Brenda
|
|
2008
|
10 |
2 |
p. 117-125
|
artikel
|
| 8 |
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
|
Kilic, Sara Sebnem
|
|
2008
|
10 |
2 |
p. 161-165
|
artikel
|
| 9 |
LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity
|
Gorostidi, A.
|
|
2008
|
10 |
2 |
p. 157-159
|
artikel
|
| 10 |
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
|
Cassereau, Julien
|
|
2008
|
10 |
2 |
p. 145-150
|
artikel
|
| 11 |
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
|
Hewamadduma, Channa
|
|
2008
|
10 |
2 |
p. 105-110
|
artikel
|
| 12 |
Reply to the “Letter to the Editors” by Steven Buyske
|
Abu-Elneel, K.
|
|
2009
|
10 |
2 |
p. 169-170
|
artikel
|
| 13 |
Robust quantification of the SMN gene copy number by real-time TaqMan PCR
|
Gómez-Curet, Ilsa
|
|
2009
|
10 |
2 |
p. 171-172
|
artikel
|
| 14 |
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform
|
Fichou, Yann
|
|
2008
|
10 |
2 |
p. 127-133
|
artikel
|
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