| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease
|
Guillet, Virginie
|
|
2009
|
11 |
1 |
p. 127-133
|
artikel
|
| 2 |
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice
|
Tapanes-Castillo, Alexis
|
|
2009
|
11 |
1 |
p. 53-71
|
artikel
|
| 3 |
A novel variation in the Twinkle linker region causing late-onset dementia
|
Echaniz-Laguna, Andoni
|
|
2009
|
11 |
1 |
p. 21-25
|
artikel
|
| 4 |
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin
|
Airoldi, Giovanni
|
|
2009
|
11 |
1 |
p. 91-100
|
artikel
|
| 5 |
COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo
|
Tong, Ying
|
|
2009
|
11 |
1 |
p. 41-52
|
artikel
|
| 6 |
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes
|
Gouvea, Silmara P.
|
|
2009
|
11 |
1 |
p. 135-138
|
artikel
|
| 7 |
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
|
Poot, Martin
|
|
2009
|
11 |
1 |
p. 81-89
|
artikel
|
| 8 |
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
|
Anheim, M.
|
|
2009
|
11 |
1 |
p. 1-12
|
artikel
|
| 9 |
Identification of CACNA1A large deletions in four patients with episodic ataxia
|
Riant, Florence
|
|
2009
|
11 |
1 |
p. 101-106
|
artikel
|
| 10 |
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease
|
Gan-Or, Z.
|
|
2009
|
11 |
1 |
p. 121-125
|
artikel
|
| 11 |
Prader–Willi syndrome, Snord115, and Htr2c editing
|
Glatt-Deeley, Heather
|
|
2009
|
11 |
1 |
p. 143-144
|
artikel
|
| 12 |
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy
|
Ymlahi-Ouazzani, Qods
|
|
2009
|
11 |
1 |
p. 27-40
|
artikel
|
| 13 |
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
|
Bacci, Costanza
|
|
2009
|
11 |
1 |
p. 73-80
|
artikel
|
| 14 |
Sequence variation in SORL1 and dementia risk in Swedes
|
Reynolds, Chandra A.
|
|
2009
|
11 |
1 |
p. 139-142
|
artikel
|
| 15 |
Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice
|
Nuber, Silke
|
|
2009
|
11 |
1 |
p. 107-120
|
artikel
|
| 16 |
U1 snRNA mis-binding: a new cause of CMT1B
|
Crehalet, Hervé
|
|
2009
|
11 |
1 |
p. 13-19
|
artikel
|
Tijdschrift beschrijving