| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
|
Polavarapu, Kiran
|
|
|
22 |
4 |
p. 271-285
|
artikel
|
| 2 |
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
|
Kloth, Katja
|
|
|
22 |
4 |
p. 263-269
|
artikel
|
| 3 |
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation
|
Yang, Sai
|
|
|
22 |
4 |
p. 323-332
|
artikel
|
| 4 |
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
|
Abdel-Hamid, Mohamed S.
|
|
|
22 |
4 |
p. 287-295
|
artikel
|
| 5 |
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
|
Quesada-Espinosa, Juan F.
|
|
|
22 |
4 |
p. 343-346
|
artikel
|
| 6 |
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse
|
Maletzko, Antonia
|
|
|
22 |
4 |
p. 297-312
|
artikel
|
| 7 |
Increased unfolded protein responses caused by MED17 mutations
|
Terabayashi, Takeshi
|
|
|
22 |
4 |
p. 353-357
|
artikel
|
| 8 |
Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families
|
Courtin, Thomas
|
|
|
22 |
4 |
p. 365-366
|
artikel
|
| 9 |
Milestones in genetics of cerebellar ataxias
|
Krygier, Magdalena
|
|
|
22 |
4 |
p. 225-234
|
artikel
|
| 10 |
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
|
Trakadis, Y.
|
|
|
22 |
4 |
p. 313-322
|
artikel
|
| 11 |
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
|
Cavestro, Chiara
|
|
|
22 |
4 |
p. 347-351
|
artikel
|
| 12 |
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
|
Štěrbová, K.
|
|
|
22 |
4 |
p. 359-364
|
artikel
|
| 13 |
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study
|
Echaniz-Laguna, Andoni
|
|
|
22 |
4 |
p. 333-341
|
artikel
|
| 14 |
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
|
van Karnebeek, Clara D.
|
|
|
22 |
4 |
p. 251-262
|
artikel
|
| 15 |
Spinocerebellar ataxias (SCAs) caused by common mutations
|
Müller, Ulrich
|
|
|
22 |
4 |
p. 235-250
|
artikel
|
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