Towards a functional pathology of hereditary neuropathies.

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Towards a functional pathology of hereditary neuropathies.

@en

Towards a functional pathology of hereditary neuropathies.

@nl

type

Item

label

Towards a functional pathology of hereditary neuropathies.

@en

Towards a functional pathology of hereditary neuropathies.

@nl

prefLabel

Towards a functional pathology of hereditary neuropathies.

@en

Towards a functional pathology of hereditary neuropathies.

@nl

P1476

Towards a functional pathology of hereditary neuropathies.

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P2093

Andreas Roos

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Hamid Azzedine

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J Michael Schröder

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P2860

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Transcriptional regulator PRDM12 is essential for human pain perception

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

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s00401-016-1645-y

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493-515

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scholarly article

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10.1007/S00401-016-1645-Y

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2016-11-28T00:00:00Z

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27896434

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