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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Magdalena Mroczek

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Journal of Neurology|January 23, 2026

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkersMagdalena Mroczek, Corinna Preusse, Andreas Hentschel, et al.

Human Mutation|June 22, 2022

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedMagdalena Mroczek, Inna Inashkina, Janis Stavusis, et al.

Journal of Neurology|January 15, 2025

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.

International Journal of Molecular Sciences|May 14, 2022

The Thousand Polish Genomes-A Database of Polish Variant Allele FrequenciesElżbieta Kaja, Adrian Lejman, Dawid Sielski, et al.

American Journal of Human Genetics|November 20, 2020

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.

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Search research articles

Showing results (41-50 of 45) with videos related to

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You have reached the last page of results.This site can display upto 45 results.

Journal of Neurology|January 23, 2026

Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkersMagdalena Mroczek, Corinna Preusse, Andreas Hentschel, et al.

Human Mutation|June 22, 2022

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedMagdalena Mroczek, Inna Inashkina, Janis Stavusis, et al.

Journal of Neurology|January 15, 2025

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.

International Journal of Molecular Sciences|May 14, 2022

The Thousand Polish Genomes-A Database of Polish Variant Allele FrequenciesElżbieta Kaja, Adrian Lejman, Dawid Sielski, et al.

American Journal of Human Genetics|November 20, 2020

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.

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