GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.

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GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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name

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

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GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

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Item

label

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

@en

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

@nl

prefLabel

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

@en

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

@nl

P1476

GNE-Myopathy in a Greek Romani ...... Protein Aggregation Pathology.

@en

P2093

A Evilä

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B Udd

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C Papadopoulos

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E Kararizou

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G K Papadimas

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P Manta

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P2860

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Hereditary inclusion body myopathy: a decade of progress

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation

Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant

GNE myopathy: new name and new mutation nomenclature.

Distal muscular dystrophies.

GNE myopathy: current update and future therapy.

Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy

Comparative utility of LC3, p62 and TDP-43 immunohistochemistry in differentiation of inclusion body myositis from polymyositis and related inflammatory myopathies.

P304

283-288

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scholarly article

P356

10.3233/JND-160154

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P433

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P478

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P577

2016-05-01T00:00:00Z

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P698

27854221

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