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Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Neurol Genet. 2025 Jul 3;11(4):e200277. doi: 10.1212/NXG.0000000000200277. eCollection 2025 Aug.
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The expression of the formin Fhod3 in mouse tongue striated muscle.
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Congenital myopathies: pathophysiological mechanisms and promising therapies.
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Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.
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Troponin and a Myopathy-Linked Mutation in Inhibit Cofilin-2-Induced Thin Filament Depolymerization.
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Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center.
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本文引用的文献

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A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Brain. 2003 Jul;126(Pt 7):1545-51. doi: 10.1093/brain/awg162. Epub 2003 Jun 4.
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Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Neurology. 2003 Feb 25;60(4):665-73. doi: 10.1212/01.wnl.0000046585.81304.bc.
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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
J Neurol Sci. 2003 Jan 15;206(1):71-8. doi: 10.1016/s0022-510x(02)00341-6.
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The ADF/cofilin family: actin-remodeling proteins.
Genome Biol. 2002;3(5):reviews3007. doi: 10.1186/gb-2002-3-5-reviews3007. Epub 2002 Apr 26.
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Tropomyosin inhibits ADF/cofilin-dependent actin filament dynamics.
J Cell Biol. 2002 Mar 18;156(6):1065-76. doi: 10.1083/jcb.200110013.
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Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
Neuromuscul Disord. 2002 Feb;12(2):151-8. doi: 10.1016/s0960-8966(01)00252-8.

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