Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.

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Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.

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http://www.wikidata.org/entity/Q47877413

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Phenotype variability and hist ...... ts with a novel DNM2 mutation.

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Phenotype variability and hist ...... ts with a novel DNM2 mutation.

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label

Phenotype variability and hist ...... ts with a novel DNM2 mutation.

@en

Phenotype variability and hist ...... ts with a novel DNM2 mutation.

@nl

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Phenotype variability and hist ...... ts with a novel DNM2 mutation.

@en

Phenotype variability and hist ...... ts with a novel DNM2 mutation.

@nl

P1476

Phenotype variability and hist ...... ts with a novel DNM2 mutation.

@en

P2093

Min Zhu

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

Ping Huang

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

Qian Zhou

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

Shuyun Chen

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

Xiaobing Li

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

Yusen Qiu

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P2860

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Mutations in dynamin 2 cause dominant centronuclear myopathy

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Phenotypic clustering in MPZ mutations.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

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34-40

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P31

scholarly article

P356

10.1111/NEUP.12432

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P433

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

P478

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P50

Daojun Hong

P577

2017-10-03T00:00:00Z

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P698

28971531

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