Results 111 to 120 of about 5,284 (245)
Evaluating proteasome modulation as a therapeutic strategy in nemaline myopathy [PDF]
, 2017 Nemaline myopathy is a subtype of congenital myopathy that is clinically characterized by muscle weakness and early hypotonia of variable severity. Pathologically, nemaline myopathy is characterized by the presence of nemaline rods that stain purple in ...
Wang, Jeffrey C.
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Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. [PDF]
, 1987 Yadollah Harati +3 more
openalex +1 more source
A Rare Case Report of Dental and Craniofacial Manifestations of Nemaline Myopathy. [PDF]
Cureus, 2023 Badnaware S, Gupta P.
europepmc +1 more source
Clinical utility gene card for: Nemaline myopathy [PDF]
, 2012 Kristen L. Nowak +4 more
openalex +1 more source
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies [PDF]
, 2017 Congenital myopathies are genetically and clinically heterogeneous conditions causing severe muscle weakness, and mutations in the ryanodine receptor gene (RYR1) represent the most frequent cause of these conditions.
Attali, Ruben +17 more
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A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin. [PDF]
Proc Natl Acad Sci U S A, 2023 Schultz LE +6 more
europepmc +1 more source
Actin Dynamics in Muscle Cells [PDF]
, 2009 In every cell, actin is a key component involved in migration, cytokinesis, endocytosis and generation of contraction. In non-muscle cells, actin filaments are very dynamic and regulated by an array of proteins that interact with actin filaments and/or ...
Skwarek-Maruszewska, Aneta
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Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2 [PDF]
, 2006 Pankaj B. Agrawal +10 more
openalex +1 more source