نتائج البحث

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

• Authors : Ross, JA; Levy, Y; Ripolone, M

Subjects: Actin; Lamin; Microtubules

• Source: Acta Neuropathologica , 138 (3) pp. 477-495. (2019)

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A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

• Authors : Robaszkiewicz, K; Siatkowska, M; Wadman, RI

Subjects: nemaline myopathy; pathogenic variant; thin filament

• Source: International Journal of Molecular Sciences , 24 (22) , Article 16147. (2023)

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Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

• Authors : Jungbluth, H; Treves, S; Zorzato, F

Subjects: Science & Technology; Life Sciences & Biomedicine; Clinical Neurology

• Source: Nature Reviews Neurology , 14 (3) pp. 151-167. (2018)

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Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

• Authors : Perry, Luke; Stimpson, Georgia; Singh, Leeha

• Source: Ann Clin Transl Neurol (2023)

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Therapeutic Aspects in Congenital Myopathies

• Authors : Jungbluth, H; Muntoni, F

• Source: Seminars in Pediatric Neurology , 29 pp. 71-82. (2019)

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