Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

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Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

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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年學術文章

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2017年學術文章

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Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

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Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

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Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

@en

Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

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Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

@en

Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

@nl

P1476

Charcot-Marie-Tooth Disease ty ...... ns, and diagnostic challenges.

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P2093

Alice B Schindler

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Ami Mankodi

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Chioma Nnamdi-Emeratom

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Christopher Grunseich

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Hasna Baloui

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Michael E Shy

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Nivedita U Jerath

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Thomas O Crawford

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P2860

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

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

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

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scholarly article

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10.1002/MUS.25981

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Roman Chrast

Terry Heiman-Patterson

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2017-10-05T00:00:00Z

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28981955

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5886823

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