Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis

Fat Mobilization in Adipose Tissue Is Promoted by Adipose Triglyceride Lipase

Robert Zimmermann, Guenter Haemmerle, Gabriele Schoiswohl et al. · Science · 2004 · 2.1K citations

Life Sciences, Biochemistry, Endocrinology +17

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

Life Sciences, Genetics, Molecular Genetics +14

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Peter Reilich, Rita Horváth, Sabine Krause et al. · Journal of Neurology · 2011 · 94 citations

Life Sciences, Genetics, Molecular Genetics +16

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

Masashi Akiyama, Kaori Sakai, Masaya Ogawa et al. · Muscle & Nerve · 2007 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

Hasan O. Akman, Guido Davidzon, Kurenai Tanji et al. · Neuromuscular Disorders · 2010 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17