Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3-Reference-Cited by-同舟云学术

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

Published:2023-10-31 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

de Fuenmayor-Fernández de la Hoz Carlos Pablo^ORCID,Lupo Vincenzo,Bermejo-Guerrero Laura,Martín-Jiménez Paloma,Hernández-Laín Aurelio,Olivé Montse,Gallardo Eduard,Esteban-Pérez Jesús,Espinós Carmen,Domínguez-González Cristina

Funder

Instituto de Salud Carlos III

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-12039-9.pdf

Reference30 articles.

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3. Cristofani R, Crippa V, Cicardi ME et al (2020) A crucial role for the protein quality control system in motor neuron diseases. Front Aging Neurosci 12:191. https://doi.org/10.3389/fnagi.2020.00191

4. Adriaenssens E, Tedesco B, Mediani L et al (2020) BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes. Sci Rep 10(1):8755. https://doi.org/10.1038/s41598-020-65664-z

5. Cristofani R, Rusmini P, Galbiati M et al (2019) The regulation of the small heat shock protein B8 in misfolding protein diseases causing motoneuronal and muscle cell death. Front Neurosci 13:796. https://doi.org/10.3389/fnins.2019.00796

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