Publications

Together with other experts on the field, we recently published a literature review which gives you a comprehensive overview on the symptoms, molecular background, diagnosis and treatment of HSAN/CIP:

Genetic pain loss disorders.
Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757.

Below you find a list of original articles which have been recently published by ENISNIP members. For an overview of our ongoing projects, please go here.

Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts.
J Lipid Res. 2021;62:100122. doi: 10.1016/j.jlr.2021.100122. Epub 2021 Sep 24. PMID: 34563520; PMCID: PMC8521209.

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. PMID: 33144514; PMCID: PMC7836667.

PLEKHG5: Merging phenotypes and disease mechanisms in Charcot-Marie-Tooth neuropathy and lower motor neuron disease.
Eur J Neurol. 2021 Apr;28(4):1106-1107. doi: 10.1111/ene.14752. Epub 2021 Feb 8. PMID: 33492783.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
J Med Genet. 2022 Oct;59(10):1024-1026. doi: 10.1136/jmedgenet-2021-108281. Epub 2022 Mar 22. PMID: 35318247; PMCID: PMC9554250.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. PMID: 33970200; PMCID: PMC8219359.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
J Clin Invest. 2022 Sep 15;132(18):e161908. doi: 10.1172/JCI161908. PMID: 35900868; PMCID: PMC9479574.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
Acta Neurol Scand. 2022 May;145(5):619-626. doi: 10.1111/ane.13592. Epub 2022 Feb 7. PMID: 35130357.