Publications

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption
19 Jun 2020
DOI: https://doi.org/10.1016/j.schres.2020.05.064
Research output: Contribution to Journal › Article (E-pub ahead of print)

Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype
12 May 2020
DOI: https://doi.org/10.1186/s12969-020-00425-w
Research output: Contribution to Journal › Article (E-pub ahead of print)

A 25-year old woman with recurrent episodes of collapse and loss of consciousness
1 May 2020
DOI: https://doi.org/10.1212/WNL.0000000000009533
Research output: Contribution to Journal › Article (E-pub ahead of print)

Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
28 Apr 2020
DOI: https://doi.org/10.1016/j.ajhg.2020.04.003
Research output: Contribution to Journal › Article (E-pub ahead of print)

Biallelic mutations in NRROS cause an early onset lethal microgliopathy
25 Feb 2020
DOI: https://doi.org/10.1007/s00401-020-02137-7
Research output: Contribution to Journal › Article (Published)

View all 92 publications on Research Explorer

Data last updated: 05/07/2020 at 19:19