Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.

Julia M MandlerJohanna HärtlIsabell CordtsMarc SturmDennis M HedderichCemsel BafligilEnayatullah BakiBenedikt BeckerGerrit MachetanzTobias B HaackAchim BertheleBernhard Hemmer Marcus Deschauer

Published in: Multiple sclerosis journal - experimental, translational and clinical (2024)

variant emphasizes CADASIL as a rare differential diagnosis and highlights the relevance of genetic testing in selected MS cases with atypical presentations.

Keyphrases

multiple sclerosis
copy number
mass spectrometry
ms ms
single cell
genome wide
dna methylation