Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

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Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

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Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

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label

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

@en

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

@nl

prefLabel

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

@en

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

@nl

P1476

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

@en

P2093

Claudia Sommer

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Erdmute Kunstmann

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Kathrin Doppler

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Stefan Krüger

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P2860

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease.

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.

P304

752-755

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P31

scholarly article

P356

10.1002/MUS.25410

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P433

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P478

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P577

2016-09-20T00:00:00Z

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P698

27649278

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