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Centronuclear Myopathies
Centronuclear Myopathies
Myotubularine et desmine: un complexe au service de la dynamique mitochondriale dans le muscle squelettique. [The myotubularin-desmin complex regulates mitochondria dynamics]
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders
Diminuer l'expression de la dynamine 2 - une piste thérapeutique dans la myopathie myotubulaire? [Decreasing dynamin 2 to rescue myotubular myopathy]
Myotubularin phosphoinositide phosphatases in human diseases
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology
Myotubularins and associated neuromuscular diseases
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Amphiphysin 2 (BIN1) in physiology and diseases
Defective membrane remodeling in neuromuscular diseases: insights from animal models
Desmin in muscle and associated diseases: beyond the structural function
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
Clinical massively parallel sequencing for the diagnosis of myopathies
Integrative data mining highlights candidate genes for monogenic myopathies
Extensive morphological and immunohistochemical characterization in myotubular myopathy
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
Clinical utility gene card for: Centronuclear and myotubular myopathies
Adult centronuclear myopathies: A hospital-based study

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