Disease: Nemaline myopathy 6
- 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
- A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report
- Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre
- Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
- Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
- Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining
- Coexisting sporadic late onset nemaline myopathy and AL amyloid myopathy - incidental or related?
- Daratumumab for treatment-refractory antibody-mediated diseases in neurology
- Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
- Inspiratory Muscle Training in Nemaline Myopathy
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- KBTBD13 is a novel cardiomyopathy gene
- Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
- NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material
- Nemaline myopathy in newly diagnosed systemic lupus erythematosus and Sjögren's overlap syndrome complicated by macrophage activation syndrome
- Nemaline myopathy type 6: clinical and myopathological features
- Respiratory muscle function in patients with nemaline myopathy
- Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function
- Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy