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

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

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@en

Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@nl

type

Item

label

Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@en

Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@nl

prefLabel

Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@en

Absence of NEFL in patient-spe ...... harcot-Marie-Tooth neuropathy.

@nl

P1476

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

@en

P2093

Jenni Lahtela

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Johanna Palmio

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Laura Mäenpää

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Mari Auranen

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Markus T Sainio

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Pirkko Mattila

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P2860

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

Analysis of protein-coding genetic variation in 60,706 humans

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Massively parallel digital transcriptional profiling of single cells

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

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

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

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

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e244

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P31

scholarly article

P356

10.1212/NXG.0000000000000244

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P433

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P478

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P50

Henna Tyynismaa

Emil Ylikallio

P577

2018-06-05T00:00:00Z

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P698

29888333

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P932

5991776

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