Result: Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2023

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Journal of neurology, neurosurgery, and psychiatry. - 95, 2 (2024) , 103-113, ISSN: 1468-330X

*DOI*:

10.1136/jnnp-2023-332132

*Result*: Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis