Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy

(2019) Daojun Hong et al.   CLINICAL NEUROPATHOLOGY

Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China

(2018) Jiaze Tan et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing

(2018) Wenhua Zhu et al.   NEUROMUSCULAR DISORDERS

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

(2018) Caitlin S. Latimer et al.   NEUROMUSCULAR DISORDERS

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

(2018) Enrico Bugiardini et al.   Frontiers in Neurology

Muscle MRI in neutral lipid storage disease (NLSD)

(2017) Matteo Garibaldi et al.   JOURNAL OF NEUROLOGY

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

(2017) Sara Missaglia et al.   NEUROMUSCULAR DISORDERS

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

(2017) Elena Maria Pennisi et al.   Orphanet Journal of Rare Diseases

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

(2016) Giorgio Tasca et al.   ANNALS OF NEUROLOGY

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

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase

(2015) Masahiro Higashi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A

(2015) Chunxiao Xu 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

Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle

(2014) Yiming Zheng et al.   RHEUMATOLOGY

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

(2013) Laurine Perrin et al.   NEUROMUSCULAR DISORDERS

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

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

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

(2011) Montse Olivé et al.   NEUROMUSCULAR DISORDERS

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 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

Triglyceride Deposit Cardiomyovasculopathy

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