Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.
about
Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutationNetwork topology of NaV1.7 mutations in sodium channel-related painful disorders.Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.Genetic aspects of sodium channelopathy in small fiber neuropathy.Neurological perspectives on voltage-gated sodium channels.Regulating excitability of peripheral afferents: emerging ion channel targets.Translational pain research: Lessons from genetics and genomics.The role of sodium channels in painful diabetic and idiopathic neuropathy.Painful neuropathies: the emerging role of sodium channelopathies.Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development.The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.Extending the clinical spectrum of pain channelopathies.Sodium channel slow inactivation interferes with open channel block.Contrasting effects of phosphatidylinositol 4,5-bisphosphate on cloned TMEM16A and TMEM16B channels.Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.Mutations in Sodium Channel Gene SCN9A and the Pain Perception Disorders
P2860
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P2860
Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@en
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@nl
type
label
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@en
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@nl
prefLabel
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@en
Small nerve fibres, small hand ...... with a novel NaV1.7 mutation.
@nl
P2093
P2860
P356
P1433
P1476
Small nerve fibres, small hand ...... d with a novel NaV1.7 mutation
@en
P2093
Chongyang Han
Ingemar S J Merkies
Janneke G J Hoeijmakers
Lawrence J Macala
Monique M Gerrits
Stephen G Waxman
Sulayman D Dib-Hajj
P2860
P304
P356
10.1093/BRAIN/AWR349
P407
P577
2012-01-26T00:00:00Z