Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin <scp>A11</scp>-Reference-Cited by-同舟云学术

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

Published:2022-09-22 Issue:10 Volume:9 Page:1660-1667
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Johari Mridul¹²^ORCID,Papadimas George³,Papadopoulos Constantinos³,Xirou Sophia³,Kanavaki Aikaterini⁴,Chrysanthou‐Piterou Margarita³,Rusanen Salla¹²^ORCID,Savarese Marco¹²^ORCID,Hackman Peter¹²,Udd Bjarne¹²⁵⁶

Affiliation:

1. Folkhälsan Research Center Helsinki Finland

2. Department of Medical and Clinical Genetics, Medicum University of Helsinki Helsinki Finland

3. Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens Athens Greece

4. Department of Radiology IASO Children's Hospital Athens Greece

5. Neuromuscular Research Center, Department of Neurology Tampere University and University Hospital Tampere Finland

6. Department of Neurology Vaasa Central Hospital Vaasa Finland

Funder

Biomedicum Helsinki-säätiö

Jane ja Aatos Erkon Säätiö

Päivikki ja Sakari Sohlbergin Säätiö

Paulon Säätiö

Sigrid Juséliuksen Säätiö

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51665

Reference22 articles.

1. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

2. Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

3. Isolated inclusion body myopathy caused by a multisystem proteinopathy–linkedhnRNPA1mutation

4. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

5. Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

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