Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

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Q55316890-0E10C6A3-CEA7-475C-8938-97C24426D4A9

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

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Choline transporter mutations ...... rupt transporter localization.

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Choline transporter mutations ...... rupt transporter localization.

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Choline transporter mutations ...... rupt transporter localization.

@en

Choline transporter mutations ...... rupt transporter localization.

@nl

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Choline transporter mutations ...... rupt transporter localization.

@en

Choline transporter mutations ...... rupt transporter localization.

@nl

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Choline transporter mutations ...... rupt transporter localization.

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Andrew H Crosby

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Burkhardt Stüve

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Emma L Baple

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Gaurav Harlalka

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Haicui Wang

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Jane Wright

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Joachim Weis

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John Chilton

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Katy E S Barwick

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Malin Kvarnung

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P2860

Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

Functional characterization of the human high-affinity choline transporter

Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif

Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice

Visualization of synaptic specializations in live C. elegans with synaptic vesicle protein-GFP fusions.

Distal spinal muscular atrophy with vocal cord paralysis

Transgenic overexpression of the presynaptic choline transporter elevates acetylcholine levels and augments motor endurance.

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

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2838-2850

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scholarly article

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10.1093/BRAIN/AWX249

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English

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140

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2017-11-01T00:00:00Z

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29088354

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5844214

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

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P2860

P2860

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

description

name

type

label

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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