Muscle MRI in neutral lipid storage disease (NLSD).

P921

Muscle MRI in neutral lipid storage disease (NLSD).

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Muscle MRI in neutral lipid storage disease (NLSD).

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Item

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Muscle MRI in neutral lipid storage disease (NLSD).

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Muscle MRI in neutral lipid storage disease (NLSD).

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Journal of Neurology

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Muscle MRI in neutral lipid storage disease (NLSD).

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P2093

Adele D'Amico

http://www.w3.org/2001/XMLSchema#string

Antonio Toscano

http://www.w3.org/2001/XMLSchema#string

Chiara Fiorillo

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Claudio Bruno

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Corrado Angelini

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Donatella Pantoli

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Elena Maria Pennisi

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Elisabetta Tasca

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Francesco Laschena

http://www.w3.org/2001/XMLSchema#string

Giovanni Antonini

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P2507

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

P2860

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

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

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

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.

Axial myopathy: an overlooked feature of muscle diseases.

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

Neuromuscular imaging in inherited muscle diseases

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

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

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

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