Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure-Reference-Cited by-同舟云学术

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Published:2022-10-20 Issue:1 Volume:145 Page:127-143
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Weihl Conrad C.^ORCID,Töpf Ana,Bengoechea Rocio,Duff Jennifer,Charlton Richard,Garcia Solange Kapetanovic,Domínguez-González Cristina,Alsaman Abdulaziz,Hernández-Laín Aurelio,Franco Luis Varona,Sanchez Monica Elizabeth Ponce,Beecroft Sarah J.,Goullee Hayley,Daw Jil,Bhadra Ankan,True Heather,Inoue Michio,Findlay Andrew R.,Laing Nigel,Olivé Montse,Ravenscroft Gianina,Straub Volker

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00401-022-02510-8.pdf

Reference25 articles.

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2. Bengoechea R et al (2020) Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy. J Clin Invest 130:4470–4485. https://doi.org/10.1172/JCI136167

3. Del Bigio MR et al (2011) Infantile muscular dystrophy in Canadian aboriginals is an alphaB-crystallinopathy. Ann Neurol 69:866–871. https://doi.org/10.1002/ana.22331

4. Blumen SC et al (2012) A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol 71:509–519. https://doi.org/10.1002/ana.22684

5. Dagvadorj A et al (2003) Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 27:669–675. https://doi.org/10.1002/mus.10370

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