Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

(2016) Maria Barbara Pasanisi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

(2016) Roberto Massa et al.   MUSCLE & NERVE

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

(2015) Banu Guzel Nur et al.   European Journal of Medical Genetics

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

(2015) Sara Missaglia et al.   MOLECULAR GENETICS AND METABOLISM

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

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

(2013) Laurine Perrin et al.   NEUROMUSCULAR DISORDERS

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

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

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

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

The role of lipid droplets in metabolic disease in rodents and humans

(2011) Andrew S. Greenberg et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

(2010) Chiara Redaelli et al.   Orphanet Journal of Rare Diseases

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population

(2010) Stefan Coassin et al.   PLoS Genetics

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5

(2009) Martina Schweiger et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

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

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

(2008) Anna Ronchetti et al.   JOURNAL OF HEPATOLOGY

Triglyceride Deposit Cardiomyovasculopathy

(2008) Ken-ichi Hirano et al.   NEW ENGLAND JOURNAL OF MEDICINE

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

(2008) Michele Gaeta et al.   SKELETAL RADIOLOGY