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

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 and comprises severe early-onset...

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Detalles Bibliográficos
Autores principales: Deneubourg, Celine, Ramm, Mauricio, Smith, Luke J., Baron, Olga, Singh, Kritarth, Byrne, Susan C., Duchen, Michael R., Gautel, Mathias, Eskelinen, Eeva-Liisa, Fanto, Manolis, Jungbluth, Heinz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037555/
https://www.ncbi.nlm.nih.gov/pubmed/34130600
http://dx.doi.org/10.1080/15548627.2021.1943177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037555/
https://www.ncbi.nlm.nih.gov/pubmed/34130600
http://dx.doi.org/10.1080/15548627.2021.1943177

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