Differential diagnosis of vacuolar myopathies in the NGS era-Reference-Cited by-同舟云学术

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Differential diagnosis of vacuolar myopathies in the NGS era

Published:2020-06-15 Issue: Volume: Page:
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:Brain Pathol

Author:

Mair Dorothea¹²³,Biskup Saskia⁴,Kress Wolfram⁵,Abicht Angela⁶,Brück Wolfgang⁷,Zechel Sabrina⁷,Knop Karl Christian⁸,Koenig Fatima Barbara⁹,Tey Shelisa¹,Nikolin Stefan¹,Eggermann Katja¹⁰,Kurth Ingo¹⁰,Ferbert Andreas²,Weis Joachim¹^ORCID

Affiliation:

1. Institute of Neuropathology RWTH Aachen University Aachen Germany

2. Department of Neurology, Kassel School of Medicine Klinikum Kassel Kassel Germany

3. University of Southampton Southampton UK

4. Centre for Genomics and Transcriptomics CeGaT Tübingen Germany

5. Institute of Human Genetics University Würzburg Würzburg Germany

6. Medical Genetics Centre MGZ Munich Germany

7. Institute of Neuropathology Göttingen University Göttingen Germany

8. Neurologie Neuer Wall Hamburg Germany

9. Institute of Pathology Klinikum Kassel Kassel Germany

10. Institute of Human Genetics RWTH Aachen University Aachen Germany

Funder

Deutsche Forschungsgemeinschaft

Deutsche Gesellschaft für Muskelkranke

Publisher

Wiley

Subject

Neurology (clinical),Pathology and Forensic Medicine,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.12864

Reference103 articles.

1. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

2. Genotype-phenotype correlations in recessive RYR1-related myopathies

3. Myopathy and primary aldosteronism: Electronmicroscopic study

4. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

5. Differential Effects of Myopathy-Associated Caveolin-3 Mutants on Growth Factor Signaling

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