Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

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Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

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Q55001192-99D22CDC-A714-48C4-AD7D-8BBAF54A5EDD

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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

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type

Item

label

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

@en

prefLabel

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

@en

P1476

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

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Hadi Manji

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Henry Houlden

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James M Polke

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Julian C Blake

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Matilde Laurà

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Michael A Gonzalez

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Michael G Hanna

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Michael Pt Lunn

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Nivedita U Jerath

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Roy Poh

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P2860

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

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

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Amino acid difference formula to help explain protein evolution

Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

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

Genetic spectrum of hereditary neuropathies with onset in the first year of life

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575-585

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scholarly article

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10.1136/JNNP-2016-315077

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English

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2017-05-13T00:00:00Z

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28501821

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5580821

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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

about

P2860

P2860

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932