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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Autophagy

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H.
PMID: 34130600
Autophagy. 2021 Aug 19;1-22. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19.

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. This novel group of human disorders may present throughout life...

Showing 1 to 1 of 1 entries