Muscle MRI in neutral lipid storage disease (NLSD)

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

Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations

(2016) Ning Wang et al.   CHINESE MEDICAL JOURNAL

Muscle imaging in inherited and acquired muscle diseases

(2016) L. ten Dam et al.   EUROPEAN JOURNAL 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

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

(2016) Jasper M Morrow et al.   LANCET NEUROLOGY

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

(2016) Roberto Massa et al.   MUSCLE & NERVE

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

(2016) C. Fiorillo et al.   Orphanet Journal of Rare Diseases

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

(2016) Sebastián Figueroa-Bonaparte et al.   PLoS One

Axial myopathy: an overlooked feature of muscle diseases

(2015) Nanna Witting et al.   BRAIN

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

(2015) Pierre G. Carlier et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

(2015) Chunxiao Xu et al.   MUSCLE & NERVE

Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration

(2014) Barbara H. Janssen et al.   PLoS One

Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

(2014) Giorgio Tasca et al.   PLoS One

‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

(2013) S. M. Sandell et al.   EUROPEAN JOURNAL 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

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

Muscle MRI in Becker muscular dystrophy

(2012) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

(2012) Aída Alejaldre et al.   NEUROMUSCULAR DISORDERS

Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France

(2012) Kieren G. Hollingsworth et al.   NEUROMUSCULAR DISORDERS

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

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns

(2011) Robert-Yves Carlier et al.   NEUROMUSCULAR DISORDERS

Presentation, Etiology, Diagnosis, and Management of Camptocormia

(2010) Josef Finsterer et al.   EUROPEAN NEUROLOGY

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

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

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

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

(2008) Michele Gaeta et al.   SKELETAL RADIOLOGY