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Neurophysiology / Alcohols / Acetylcholine / Cell signaling / Choline / Hemicholinium-3 / Dok-7 / Neuromuscular junction / Congenital myasthenic syndrome / Biology / Neuroscience / Quaternary ammonium compounds


Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
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Document Date: 2013-07-11 11:22:53

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City

Cambridge / Nashville / Pruitt / London / /

Company

Norton / Cregan S.P. / Harding A.E. / Robb S.A. / Mills N.A. / Patterson / Black S.A. / /

Country

United States / United Kingdom / /

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Event

Product Issues / /

Facility

Wellcome Trust Genome Campus / C terminus / University College London Institute of Neurology / Trust Sanger Institute / Queen Square / St. George’s Hospital / St. George’s University of London / /

IndustryTerm

protein products / Online Mendelian Inheritance / bp product / kDa products / restriction site / Web Resources / affected motor systems / /

MedicalCondition

genetically heterogeneous neuromuscular disorders / distal hereditary motor neuropathies / dysfunction / twitch / muscle weakness / distal hereditary motor / distal hereditary motor neuronopathies / distal hereditary motor neuropathy type VII / vocal-cord paresis / congenital myasthenic syndrome / ophthalmoparesis / disease / endplate acetylcholine-receptor deficiency / vocal-cord paralysis / NMJ dysfunction / Hereditary spastic paraplegias / Charcot-Marie-Tooth disease / respiratory dysfunction / congenital myasthenic syndromes / vocal cord paralysis / early-onset paralysis / early postnatal paralysis / diseases / myasthenic syndrome / Distal spinal muscular atrophy / disorders / fatiguing muscle weakness / /

MedicalTreatment

pharmacotherapies / /

Movie

A.I. / /

Organization

American Society of Human Genetics / 3Wellcome Trust Sanger Institute / St. George’s Hospital / Department of Neurology / 6Medical Research Council Centre for Neuromuscular Diseases / Medical Research Council / Wandsworth Local Research Ethics Committee / Centre for Human Genetics / Vanderbilt University School of Medicine / University College London Institute of Neurology / Neurosciences Research Foundation / University of London / /

Person

Nat / Neurology / Katy E.S. Barwick / /

Position

Harper / /

Product

FS / Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy Katy E.S. Barwick / 1 / 8 Jane / /

ProvinceOrState

New Jersey / Tennessee / /

PublishedMedium

The American Journal of Human Genetics / /

Technology

research protocol / antibodies / directed mutagenesis / cloning / http / gel electrophoresis / /

URL

http /

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