'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D. - Wikidata - awgldk - TriplyDB

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

http://www.wikidata.org/entity/Q47985315

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DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.Muscle MRI in muscular dystrophies The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Muscle imaging in inherited and acquired muscle diseases.Muscle MRI in neutral lipid storage disease (NLSD).Overexpression of DNAJB6 promotes colorectal cancer cell invasion through an IQGAP1/ERK-dependent signaling pathway.Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

http://www.wikidata.org/entity/Q47985315

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年學術文章

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

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European Journal of Neurology

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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

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B A Udd

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I Mahjneh

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J Palmio

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S M Sandell

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P2860

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Zaspopathy in a large classic late-onset distal myopathy family

Neuromuscular imaging in inherited muscle diseases

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders.

Distinct muscle imaging patterns in myofibrillar myopathies.

Distal myopathies--new genetic entities expand diagnostic challenge.

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

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1553-1559

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10.1111/ENE.12239

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