Congenital myasthenic syndromes in 2012. - Wikidata - awgldk - TriplyDB

Congenital myasthenic syndromes in 2012.

Congenital myasthenic syndromes in 2012.

http://www.wikidata.org/entity/Q34407051

about

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.Muscle magnetic resonance imaging in congenital myasthenic syndromes.Neuromuscular disorders in zebrafish: state of the art and future perspectives.A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.

P2860

Q24187268-2C72376C-DF71-4388-8E59-8BDA7674B710 Q36155690-8E6E3BF1-0433-4FB0-8BDE-451F957C20CC Q37169452-BAB6B89A-64AB-4646-9576-0E5507511F49 Q38098929-086CA067-5EF5-4A79-9343-F4543AAB2F62 Q38900668-666FA478-0F6D-49B0-A2AE-788E43742078 Q39337788-676913ED-1E98-4135-82E4-B954EB36A63B Q39543908-1763C9D0-B3D8-498B-9261-9F9D827BCA71 Q46069435-EA728BBD-B6ED-471F-BC5C-84EBDF131CDC Q54304030-79D62EE0-6653-49FB-A60D-3ACF35395CFA Q55059538-8A083D43-59BD-45DE-994F-5FA15E8FB40C

P2860

Congenital myasthenic syndromes in 2012.

http://www.wikidata.org/entity/Q34407051

description

2012 nî lūn-bûn

@nan

2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

Congenital myasthenic syndromes in 2012.

@ast

Congenital myasthenic syndromes in 2012.

@en

Congenital myasthenic syndromes in 2012.

@nl

type

label

Congenital myasthenic syndromes in 2012.

@ast

Congenital myasthenic syndromes in 2012.

@en

Congenital myasthenic syndromes in 2012.

@nl

prefLabel

Congenital myasthenic syndromes in 2012.

@ast

Congenital myasthenic syndromes in 2012.

@en

Congenital myasthenic syndromes in 2012.

@nl

P1433

Q34407051-33485BA5-576A-4CD0-8BB8-EEF62783AE02

P1476

Q34407051-E8B249D3-AC38-4862-8FEB-8D45B517CFC0

P2093

Q34407051-3BD76C86-0E72-4287-87A5-7A223F318679

P2860

Q34407051-02519950-836F-4BAF-BDEA-5013D68DAE50

Q34407051-0FA8DF05-E434-4F7A-84DD-28BE084DC97F

Q34407051-1139AC87-BB5D-4A2F-8946-CAB5E5F5A0EF

Q34407051-205DE2C7-9B1E-4ACC-904B-0825DDF56E05

Q34407051-220B50BF-136F-4DFA-9918-8BCF131657B5

Q34407051-25CB5A07-C629-4AC8-A13C-F9F23D05FA7A

Q34407051-283FD15E-D572-41C2-97DA-A69FCC4B4015

Q34407051-2A17D3E3-C28C-46F7-961B-C8EF0DA4084B

Q34407051-328CC981-C9EE-43F8-BDC3-AD3E0AE7B8F4

Q34407051-351818FB-1BD5-4EA2-A337-1145E1AA99EC

P2888

Q34407051-6CC8B236-E406-4BC3-9736-C7E1155A0CA2

P304

Q34407051-D5F8F07F-A3A9-4796-AAD7-3D5E964FF7E5

P31

Q34407051-0FEFBB70-20C0-492B-AC43-E0C1C28AC14F

P356

Q34407051-4EF74CBF-D2E4-4D44-B07F-14553FF239AA

P433

Q34407051-774178BF-752E-4B92-9A01-CD87BA03E92A

P478

Q34407051-8B21576A-4076-487B-9412-092AA631C7A0

P577

Q34407051-09F55754-8742-48F0-B0B7-5D607C4491DB

P6179

Q34407051-0707D541-7581-4F82-9D23-F05139144F62

P698

Q34407051-2D59045D-5D00-4448-B20E-EBE6D71A582B

P921

Q34407051-C79A62E9-C2CA-4F2B-B914-6F5BFF7AF780

P932

Q34407051-B3845364-587F-4C4C-8495-F3554F80D6B0

P356

S11910-011-0234-7

P1433

Current Neurology and Neuroscience Reports

P1476

Congenital myasthenic syndromes in 2012.

@en

P2093

Andrew G Engel

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

P2860

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

A mammalian homolog of Drosophila tumorous imaginal discs, Tid1, mediates agrin signaling at the neuromuscular junction

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction

P2888

s11910-011-0234-7

P304

92-101

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

P31

scholarly article

P356

10.1007/S11910-011-0234-7

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

P433

1

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

P478

12

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

P577

2012-02-01T00:00:00Z

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

P6179

1039498917

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

P698

21997714

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

P921

P932

4209912

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