(Q35642815)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22136189%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. (English)

1 reference

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17 January 2020

1

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17 January 2020

Jin-Sung Choi

3

1 reference

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17 January 2020

Giuseppe Lauria

5

1 reference

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17 January 2020

Catharina G Faber

9

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17 January 2020

author name string

Chongyang Han

2

1 reference

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17 January 2020

Janneke G J Hoeijmakers

4

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17 January 2020

Joost P H Drenth

6

1 reference

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17 January 2020

Monique M Gerrits

7

1 reference

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17 January 2020

Sulayman D Dib-Hajj

8

1 reference

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17 January 2020

Ingemar S J Merkies

10

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17 January 2020

Stephen G Waxman

11

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17 January 2020

publication date

2 December 2011

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17 January 2020

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17 January 2020

volume

7

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17 January 2020

page(s)

92

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https://scigraph.springernature.com/pub.10.1186/1744-8069-7-92

17 January 2020

exact match

0 references

cites work

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Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.

12 July 2018

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Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

12 July 2018

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Diabetic neuropathies: update on definitions, diagnostic criteria, estimation of severity, and treatments

12 July 2018

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European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the [...]

12 July 2018

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Sodium channels in normal and pathological pain

12 July 2018

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Pain perception is altered by a nucleotide polymorphism in SCN9A

12 July 2018

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A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

12 July 2018

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

12 July 2018

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The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology

12 July 2018

1 reference

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Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders

12 July 2018

1 reference

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Mitochondrial dynamics and peripheral neuropathy

12 July 2018

1 reference

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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)

12 July 2018

1 reference

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Neurobiology: a channel sets the gain on pain

12 July 2018

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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

12 July 2018

1 reference

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Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

12 July 2018

1 reference

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A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

12 July 2018

1 reference

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International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

12 July 2018

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Small fibre neuropathies.

12 July 2018

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SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels

12 July 2018

1 reference

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12 July 2018

Small-fiber neuropathy

1 reference

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Slow closed-state inactivation: a novel mechanism underlying ramp currents in cells expressing the hNE/PN1 sodium channel.

12 July 2018

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A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.

12 July 2018

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Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons

12 July 2018

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Thermal testing: normative data and repeatability for various test algorithms

12 July 2018

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Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells

12 July 2018

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Classification of peripheral neuropathy: the long and the short of it.

12 July 2018

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Distal small fiber neuropathy: results of tests of sweating and autonomic cardiovascular reflexes

12 July 2018

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Probability of conduction deficit as related to fiber length in random-distribution models of peripheral neuropathies

12 July 2018

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Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

12 July 2018

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Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation

25 September 2018

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Etiology of small-fiber neuropathy

25 September 2018

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Intraepidermal nerve fiber density and its application in sarcoidosis.

25 September 2018

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NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

25 September 2018

1 reference

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25 September 2018

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12 December 2020

Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology

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12 December 2020

Comparison of thermal threshold tests to assess small nerve fiber function: limits vs. levels

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12 December 2020

Abnormal warm and cold sensation thresholds suggestive of small-fibre neuropathy in sarcoidosis

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12 December 2020

Identifiers

DOI

10.1186/1744-8069-7-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22136189%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 January 2020

0 references

1 reference

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17 January 2020

PubMed publication ID

22136189

1 reference