Disease: Neutral lipid storage disease with myopathy
- A novel <em>PNPLA2</em> mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
- A novel homozygous missense mutation in <em>PNPLA2</em> in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
- Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
- Chanarin-Dorfman Syndrome: A Neutral Lipid Storage Disease With Ichthyosis and Liver Cirrhosis
- Clinical characteristics and genetic analysis of a child with Neutral lipid storage disease with myopathy
- Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy
- Dilated cardiomyopathy caused by mutation of the <em>PNPLA2</em> gene: a case report and literature review
- Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly
- Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients
- Hereditary myopathies associated with hematological abnormalities
- HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy
- Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases
- Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
- Leading the way in the nervous system: Lipid Droplets as new players in health and disease
- Maternal Isodisomy of Chromosome 3 Combined with a <em>De Novo</em> Mutation in the <em>ABHD5</em> Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
- MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
- Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review
- Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
- Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
- Neutral lipid storage disease with myopathy in China: a large multicentric cohort study
- Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report
- Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant
- Neutral lipid storage disease with myopathy: A 10-year follow-up case report
- Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients
- Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function
- Neutral lipid-storage disease with myopathy and Jordan anomaly
- Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
- The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
- Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days
- Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report