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Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report
Published 2024-09-01Subjects: Get full text
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Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures
Published 2024-11-01Subjects: Get full text
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Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Published 2020-12-01Subjects: “…Laing distal myopathy…”
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Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3
Published 2018-12-01Subjects: Get full text
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Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
Published 2017-12-01Subjects: Get full text
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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
Published 2023-05-01Subjects: Get full text
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GYG1: A distal myopathy with polyglucosan bodies
Published 2020-09-01Subjects: “…distal myopathy…”
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Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress
Published 2022-03-01Subjects: Get full text
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Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Published 2020-01-01Subjects: Get full text
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The challenging diagnosis of dysferlinopathy – a case report
Published 2021-06-01Subjects: Get full text
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The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
Published 2024-12-01Subjects: Get full text
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Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series
Published 2024-08-01Subjects: Get full text
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GNE myopathy: from clinics and genetics to pathology and research strategies
Published 2018-05-01Subjects: Get full text
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Decoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress
Published 2024-11-01Subjects: Get full text
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Obstetric risk in patients with myopathy due to MATR3 mutations
Published 2015-03-01Subjects: Get full text
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GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy
Published 2018-11-01Subjects: Get full text
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DNAJB6 myopathies: Focused review on an emerging and expanding group of myopathies
Published 2016-09-01Subjects: Get full text
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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Published 2018-03-01Subjects: “…distal myopathy…”
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