Results 131 to 140 of about 314,455 (204)

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

open access: yesJ Neuromuscul Dis
Pion E   +21 more
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

open access: yesHum Mutat
de Feraudy Y   +24 more
europepmc   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

open access: yesJ Neuromuscul Dis
Pennisi A   +10 more
europepmc   +1 more source

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature. [PDF]

open access: yesPediatr Rep
Ostojić S   +9 more
europepmc   +1 more source

Phenotype-specific muscle proteomic profiling in titinopathies. [PDF]

open access: yesActa Neuropathol Commun
Perrin A   +32 more
europepmc   +1 more source

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