Concepedia

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Chiara Fiorillo, Giacomo Brisca, Denise Cassandrini, Sara Scapolan, Guja Astrea, Maura Valle, Francesca Scuderi, Federica Trucco, Andrea Natali, Gianmichele Magnano,

Biochemical and Biophysical Research Communications · 2012 · 31 citations · 15 references

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References

15

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Caroline Lefèvre, Florence Jobard, F. Caux et al. · The American Journal of Human Genetics · 2001 · 463 citations · Full text

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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer, Caroline Lefèvre, Éva Morava et al. · Nature Genetics · 2006 · 461 citations

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EFNS guidelines on the diagnostic approach to pauci‐ or asymptomatic hyperCKemia

Theodoros Kyriakides, C. Angelini, J. Schaefer et al. · European Journal of Neurology · 2010 · 196 citations · Full text

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A short protocol for muscle MRI in children with muscular dystrophies

Eugenio Mercuri · European Journal of Paediatric Neurology · 2002 · 139 citations

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The Lack of the C-Terminal Domain of Adipose Triglyceride Lipase Causes Neutral Lipid Storage Disease through Impaired Interactions with Lipid Droplets

Kunihisa Kobayashi, Toyoshi Inoguchi, Yasutaka Maeda et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 97 citations

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