Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

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Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

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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

@wuu

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

@zh-hans

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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name

Charcot-Marie-Tooth disease ty ...... 112Ser) Litaf/Simple mutation.

@en

Charcot-Marie-Tooth disease ty ...... ical findings for the c.334G>a

@nl

type

Item

label

Charcot-Marie-Tooth disease ty ...... 112Ser) Litaf/Simple mutation.

@en

Charcot-Marie-Tooth disease ty ...... ical findings for the c.334G>a

@nl

prefLabel

Charcot-Marie-Tooth disease ty ...... 112Ser) Litaf/Simple mutation.

@en

Charcot-Marie-Tooth disease ty ...... ical findings for the c.334G>a

@nl

P1476

Charcot-Marie-Tooth disease ty ...... y112Ser) Litaf/Simple mutation

@en

P2093

Nivedita U Jerath

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P2860

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Pe

LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.

Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.

Pain assessment in Charcot-Marie-Tooth (CMT) disease.

Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.

P304

1092-1095

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P31

scholarly article

P356

10.1002/MUS.25600

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P433

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P478

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M Shy

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2017-04-29T00:00:00Z

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P698

28164329

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P921

electrophysiology

P932

5587391

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