A novel homozygous mutation in TBK1 gene causing ALS-FTD

Neurol Sci. 2022 Mar;43(3):2101-2104. doi: 10.1007/s10072-021-05820-z. Epub 2022 Jan 14.

Authors

Laura Libonati¹, Marco Ceccanti², Chiara Cambieri², Davide Colavito³, Federica Moret², Ilenia Fiorini², Maurizio Inghilleri²

Affiliations

¹ Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Viale dell'università 30, 00185, Rome, Italy. laura.libonati@uniroma1.it.
² Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Viale dell'università 30, 00185, Rome, Italy.
³ Research & Innovation S.R.L. (R&I Genetics), 35127, Padova, Italy.

PMID: 35028775
DOI: 10.1007/s10072-021-05820-z

No abstract available

Publication types

Letter

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
Frontotemporal Dementia* / genetics
Genetic Association Studies
Homozygote
Humans
Mutation / genetics
Protein Serine-Threonine Kinases* / genetics

Substances

Protein Serine-Threonine Kinases
TBK1 protein, human