Neutral lipid-storage disease with myopathy and extended phenotype with novelPNPLA2mutation

A myopathy with unusual features caused byPNPLA2gene mutations

(2015) Elena M. Pennisi et al.   MUSCLE & NERVE

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

(2014) Kimihiko Kaneko et al.   NEUROMUSCULAR DISORDERS

Effects of Bezafibrate Treatment in a Patient and a Carrier With Mutations in the PNPLA2 Gene, Causing Neutral Lipid Storage Disease With Myopathy

(2013) Tineke van de Weijer et al.   CIRCULATION RESEARCH

Metabolic Consequences of Adipose Triglyceride Lipase Deficiency in Humans: An In Vivo Study in Patients With Neutral Lipid Storage Disease With Myopathy

(2013) Andrea Natali et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PNPLA2 mutation: A paediatric case with early onset but indolent course

(2013) Laurine Perrin et al.   NEUROMUSCULAR DISORDERS

A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy

(2012) Daniel B. Ash   ARCHIVES OF NEUROLOGY

Blocked Muscle Fat Oxidation During Exercise in Neutral Lipid Storage Disease

(2012) Mette Ørngreen   ARCHIVES OF NEUROLOGY

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

(2012) Chiara Fiorillo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Symptomatic lipid storage in carriers for the PNPLA2 gene

(2012) Mirian C H Janssen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

(2012) Daniela Tavian et al.   HUMAN MOLECULAR GENETICS

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

(2012) Pengfei Lin et al.   JOURNAL OF HUMAN GENETICS

Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

(2012) Pascal Laforêt et al.   MOLECULAR GENETICS AND METABOLISM

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

(2011) J. Chen et al.   CLINICAL NEUROPATHOLOGY

Adipose triglyceride lipase affects triacylglycerol metabolism at brain barriers

(2011) Karoline Etschmaier et al.   JOURNAL OF NEUROCHEMISTRY

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

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

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

(2010) Hasan O. Akman et al.   NEUROMUSCULAR DISORDERS

The crucial role of ATGL for energy supply of muscles

(2009) Gunilla Olivecrona   JOURNAL OF LIPID RESEARCH

Clinical and genetic characterization of Chanarin–Dorfman syndrome

(2008) Claudio Bruno et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

(2008) Filomena Campagna et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

(2008) Martina Schweiger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Kunihisa Kobayashi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Distal lipid storage myopathy due to PNPLA2 mutation

(2008) Aya Ohkuma et al.   NEUROMUSCULAR DISORDERS