| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
|
Damseh, Nadirah
|
|
2015
|
16 |
3 |
p. 215-221
|
artikel
|
| 2 |
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia
|
Choquet, Karine
|
|
2015
|
16 |
3 |
p. 233-236
|
artikel
|
| 3 |
Association of a common genetic variant within ANKK1 with six-month cognitive performance after traumatic brain injury
|
Yue, John K.
|
|
2015
|
16 |
3 |
p. 169-180
|
artikel
|
| 4 |
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32
|
Sargiannidou, Irene
|
|
2015
|
16 |
3 |
p. 193-200
|
artikel
|
| 5 |
Erratum to: The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
|
Duarri, A.
|
|
2015
|
16 |
3 |
p. 243
|
artikel
|
| 6 |
Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate
|
Fittschen, M.
|
|
2015
|
16 |
3 |
p. 181-192
|
artikel
|
| 7 |
Long intervening non-coding RNA 00320 is human brain-specific and highly expressed in the cortical white matter
|
Mills, James D.
|
|
2015
|
16 |
3 |
p. 201-213
|
artikel
|
| 8 |
Milestones in Friedreich ataxia: more than a century and still learning
|
Abrahão, Agessandro
|
|
2015
|
16 |
3 |
p. 151-160
|
artikel
|
| 9 |
Mitochondrial serine protease HTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease
|
Chao, Yin Xia
|
|
2015
|
16 |
3 |
p. 241-242
|
artikel
|
| 10 |
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
|
Baertling, Fabian
|
|
2015
|
16 |
3 |
p. 237-240
|
artikel
|
| 11 |
Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability
|
Akkad, Denis A.
|
|
2015
|
16 |
3 |
p. 161-168
|
artikel
|
| 12 |
The fused in sarcoma protein forms cytoplasmic aggregates in motor neurons derived from integration-free induced pluripotent stem cells generated from a patient with familial amyotrophic lateral sclerosis carrying the FUS-P525L mutation
|
Liu, Xinxiu
|
|
2015
|
16 |
3 |
p. 223-231
|
artikel
|
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