EDITORIAL
Published on 17 Aug 2022
Editorial: Myopathology of inherited myopathies
doi 10.3389/fneur.2022.1004562
- 1,437 views
- Frontiers in Neurology
- Neuromuscular Disorders and Peripheral Neuropathies
- Research Topics
- Myopathology of Inherited Myopathies
Myopathology of Inherited Myopathies
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Articles
REVIEW
Published on 04 Mar 2022
LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism
doi 10.3389/fneur.2022.840683
- 3,899 views
- 9 citations
ORIGINAL RESEARCH
Published on 03 Mar 2022
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects
doi 10.3389/fneur.2022.815523
- 5,893 views
- 16 citations
ORIGINAL RESEARCH
Published on 07 Dec 2021
Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies
doi 10.3389/fneur.2021.718396
- 2,995 views
- 2 citations
BRIEF RESEARCH REPORT
Published on 05 Oct 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
doi 10.3389/fneur.2021.735488
- 2,848 views
- 9 citations
BRIEF RESEARCH REPORT
Published on 01 Oct 2021
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease
doi 10.3389/fneur.2021.715386
- 1,949 views
- 4 citations
BRIEF RESEARCH REPORT
Published on 28 Jun 2021
Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
doi 10.3389/fneur.2021.664618
- 2,793 views
- 4 citations
ORIGINAL RESEARCH
Published on 15 Jun 2021
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
doi 10.3389/fneur.2021.660113
- 2,605 views
- 8 citations
CASE REPORT
Published on 27 Apr 2021
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report
doi 10.3389/fneur.2021.643805
- 2,082 views
- 7 citations
Published in
Frontiers in Neurology
- Neuromuscular Disorders and Peripheral Neuropathies
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- 6,794Article downloads