Autophagic vacuolar myopathy is a common feature of CLN3 disease-Reference-Cited by-同舟云学术

Autophagic vacuolar myopathy is a common feature of CLN3 disease

Published:2018-10-14 Issue:11 Volume:5 Page:1385-1393
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Radke Josefine¹²,Koll Randi¹,Gill Esther³,Wiese Lars⁴,Schulz Angela⁵,Kohlschütter Alfried⁵,Schuelke Markus³,Hagel Christian⁶,Stenzel Werner¹,Goebel Hans H.¹⁷

Affiliation:

1. Department of Neuropathology; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health; Berlin Germany

2. Berlin Institute of Health (BIH); Berlin Germany

3. Department of Neuropediatrics and NeuroCure Clinical Research Center; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health; Berlin Germany

4. Department of Neurology; Klinikum Ernst-von-Bergmann Potsdam; Potsdam Germany

5. Department of Paediatrics; Universitätsklinikum Hamburg-Eppendorf; Hamburg Germany

6. Institute of Neuropathology; Universitätsklinikum Hamburg-Eppendorf; Hamburg Germany

7. Department of Neuropathology; Johannes Gutenberg-Universität Mainz; Mainz Germany

Funder

Charité - Universitätsmedizin Berlin

Berlin Institute of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/acn3.662/fullpdf

Reference18 articles.

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3. Novel CLN3 mutation causing autophagic vacuolar myopathy;Cortese;Neurology,2014

4. A novel mutation af CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy;Licchetta;Eur J Med Genet,2015

5. Rapid diagnostic test for the major mutation underlying Batten disease;Jarvela;J Med Genet,1996

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