Isolated eyelid closure myotonia in two families with sodium channel myotonia - Wikidata - wikimedia - TriplyDB

Isolated eyelid closure myotonia in two families with sodium channel myotonia

Isolated eyelid closure myotonia in two families with sodium channel myotonia

http://www.wikidata.org/entity/Q30494094

about

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene Sodium channelopathies of skeletal muscle result from gain or loss of function.Diagnosis of skeletal muscle channelopathies.A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.State of the art in hereditary muscle channelopathies.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.

P2860

Q36167191-9C948F09-F69D-4B88-B625-CA16EC9074D6 Q37711046-FB829A30-8AE4-4CB6-A957-191F4EEA9497 Q38143226-1A04DC65-64EF-4CCC-9228-B7B0A82E8847 Q39736202-469562E0-2A7E-4F9C-886B-CC9E107B8D25 Q42330124-3A7D2347-A86E-4354-9BB3-94A7AD21D53C Q42610360-E5099C94-CC01-4245-A811-44D31D729F5E Q55275026-FEC0342C-DDD4-4EFC-908E-9ECE8D20CDA0

P2860

Isolated eyelid closure myotonia in two families with sodium channel myotonia

http://www.wikidata.org/entity/Q30494094

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@ast

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@en

type

label

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@ast

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@en

prefLabel

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@ast

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@en

P1433

Q30494094-2C5F1944-DE02-4BC3-A30D-D2369AEBE1C3

P1476

Q30494094-971304A5-A9B7-4FC6-967C-D7085A69C59C

P2093

Q30494094-32A60A8D-6931-42D1-88A7-95F5C33D005B

Q30494094-374C7F12-D8A4-40E8-9383-61447D1DEB5F

Q30494094-824E49B7-0309-428B-A515-C2ABBEC56355

Q30494094-A27968CD-42BA-4269-9FD0-5D05F3D06BCE

Q30494094-AB7D3DBF-8962-438C-8A65-880A9A8BEF6D

Q30494094-BCC67B3A-3A7C-4731-83B6-B9A5F33FB4BC

P2860

Q30494094-20E33397-D555-424D-8990-EEEA9891AB94

Q30494094-56E996F7-1030-4E30-806A-FE65C4929A32

Q30494094-AE4F27B8-2A09-4D20-9905-FAC5585011CB

Q30494094-D52E167B-6765-4FCF-A75F-186DD108C2FA

Q30494094-D5D41972-DB8B-4FF7-89C9-11714F453A29

Q30494094-D782855F-C711-43E7-8F05-1014F8ED7CF9

Q30494094-EA21D02C-7B2A-4F49-BA7F-3211B6F23A16

P2888

Q30494094-94D0A06E-C245-4893-A3A4-93FD67146396

P304

Q30494094-C01DEC75-E405-4A9F-9844-25CB48F44F8D

P31

Q30494094-74a19b00-1666-48d2-a4eb-7ed064d762bd

Q30494094-A0E6CA88-8DB3-422A-8EE7-520C0C78726F

P356

Q30494094-EDFB5D1B-DCBE-4B98-94A7-529FE27E9C94

P433

Q30494094-4343E4DF-F186-48F7-951F-A850F8741996

P478

Q30494094-FE7631B4-1AB8-41CF-B9E7-934B036AAE2A

P577

Q30494094-5C6DBD72-C8E3-4EB4-8867-2197DD363F63

P5875

Q30494094-B63F0679-DCFD-4DF8-97B2-7C2208F1922A

P698

Q30494094-D6128462-D8A4-409E-B23C-D4A2A96DAB74

P932

Q30494094-9841F694-8ACF-498E-93E2-7BD6081A68D1

P356

S10048-009-0225-X

P1433

P1476

Isolated eyelid closure myotonia in two families with sodium channel myotonia

@en

P2093

B C Stunnenberg

http://www.w3.org/2001/XMLSchema#string

B G van Engelen

http://www.w3.org/2001/XMLSchema#string

C G Faber

http://www.w3.org/2001/XMLSchema#string

G Drost

http://www.w3.org/2001/XMLSchema#string

H B Ginjaar

http://www.w3.org/2001/XMLSchema#string

J Trip

http://www.w3.org/2001/XMLSchema#string

P2860

Human skeletal muscle sodium channelopathies

Clustering of sodium channels at the neuromuscular junction.

Myotonic syndromes.

Human facial muscles: dimensions, motor endplate distribution, and presence of muscle fibers with multiple motor endplates.

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.

99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands.

P2888

s10048-009-0225-x

P304

257-260

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S10048-009-0225-X

http://www.w3.org/2001/XMLSchema#string

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

11

http://www.w3.org/2001/XMLSchema#string

P577

2009-10-30T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

38055103

http://www.w3.org/2001/XMLSchema#string

P698

19876661

http://www.w3.org/2001/XMLSchema#string

P932

2854355

http://www.w3.org/2001/XMLSchema#string