| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acknowledgement to referees 2020/2021
|
|
|
|
23 |
1 |
p. 83
|
artikel
|
| 2 |
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
|
López, Eva
|
|
|
23 |
1 |
p. 79
|
artikel
|
| 3 |
Correction to: Increased unfolded protein responses caused by MED17 mutations
|
Terabayashi, Takeshi
|
|
|
23 |
1 |
p. 75-76
|
artikel
|
| 4 |
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
|
Dzinovic, Ivana
|
|
|
23 |
1 |
p. 77
|
artikel
|
| 5 |
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
|
Rinaldi, Berardo
|
|
|
23 |
1 |
p. 81
|
artikel
|
| 6 |
Fatal status epilepticus: the broad phenotypic heterogeneity of NARS2 variants
|
Finsterer, J.
|
|
|
23 |
1 |
p. 73-74
|
artikel
|
| 7 |
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
|
Huang, Kun
|
|
|
23 |
1 |
p. 37-44
|
artikel
|
| 8 |
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees
|
Brenner, David
|
|
|
23 |
1 |
p. 59-65
|
artikel
|
| 9 |
In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer
|
Štěrbová, K.
|
|
|
23 |
1 |
p. 67-68
|
artikel
|
| 10 |
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
|
Brugnoni, Raffaella
|
|
|
23 |
1 |
p. 19-25
|
artikel
|
| 11 |
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
|
Min, Ji-You
|
|
|
23 |
1 |
p. 45-58
|
artikel
|
| 12 |
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
|
Rinaldi, Berardo
|
|
|
23 |
1 |
p. 27-35
|
artikel
|
| 13 |
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype
|
Almeida, Maria Rosário
|
|
|
23 |
1 |
p. 1-9
|
artikel
|
| 14 |
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
|
Chen, Hongzhu
|
|
|
23 |
1 |
p. 11-17
|
artikel
|
| 15 |
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer’s disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages
|
Ikeda, Masaki
|
|
|
23 |
1 |
p. 69-71
|
artikel
|
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