SGCE mutations cause psychiatric disorders: clinical and genetic characterization - Wikidata - wikimedia - TriplyDB

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

http://www.wikidata.org/entity/Q33738468

about

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia Treatment of myoclonus-dystonia syndrome with tetrabenazine.Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Functional dystonia and the borderland between neurology and psychiatry: New concepts.A guide to childhood motor stereotypies, tic disorders and the tourette spectrum for the primary care practitioner.Genetics of dystonia: what's known? What's new? What's next?SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Long-term neuropsychiatric outcomes after pallidal stimulation in primary and secondary dystonia.Psychiatric disorders, myoclonus dystonia and SGCE: an international study New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain.Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm Primary and secondary dystonic syndromes: an update.The genetics of dystonia: new twists in an old tale.Understanding dystonia: diagnostic issues and how to overcome them.Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.A History of Dystonia: Ancient to Modern Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.Low CSF 5-HIAA in Myoclonus Dystonia.Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation.Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients.Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.Dystonia.Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.Effects of insulin-like growth factor binding protein 3 on apoptosis of cutaneous squamous cell carcinoma cells

P2860

Q24337555-D4E79A37-D199-4A0E-A5ED-8D7F8197203B Q27304654-379E6102-5E7E-4ED8-8C0D-7FC9C1DCE650 Q27318347-08835FA7-D6B0-468B-8E2F-70CAE7A05031 Q30394217-D470FA40-EE29-4FE4-B05E-3EF11E834E28 Q30439839-9546EE1A-49F7-4AF8-8152-C4EC6FF82642 Q33356255-3719FD7B-4D16-4B8E-8E14-071A39905AD1 Q35829768-5804002E-A2C4-49E6-AD8E-4C1A86C88B18 Q35945727-3E282B79-34D2-434A-A3AE-C27CCF031906 Q36439876-14EC7B23-8A7A-46AA-B4A7-4C60CD94D9F3 Q37445958-A931015E-FE8E-44A2-956E-C3BD19FED1AB Q37653496-B3017FDE-8B2A-401F-AAEF-09F4E660EE3F Q38113756-8D835BD4-6354-443B-9744-37E301873861 Q38115272-7F09664C-FFCC-4F98-B3D2-80128E28A220 Q39024386-EEFCB3B2-3395-4231-9D2E-407ED3414FD4 Q39150577-9C9128EF-BDCC-4503-8FF4-09B35D1B4490 Q41540152-95B818EE-F394-4F98-BE28-C968C569BCDA Q41878236-5C4A3C0B-7D48-47C8-A446-B76CB20F138E Q46499412-E31F6E75-64AD-41D6-9AAB-BFE25EE13E05 Q47915648-6D422534-AEA2-4F80-B3E6-175FFF955087 Q48236186-65AE9E95-9CE7-422D-8A48-16E813478313 Q48273904-0999FE36-23FB-479C-8021-4BEC34B0938C Q48567520-B200C5C2-BF41-429A-A224-B8C8BDD048E5 Q48905953-A8E20AFF-D52C-4F05-BC23-B99D1DAAC483 Q50990564-132ED2E2-E697-4759-8B54-198EC2B6C2CC Q53072752-0D8B48A5-2262-4725-88F1-3C56710CE31A Q54501751-93E56031-120C-4ADA-BEAE-BC5B6202134C Q57483224-C62DAE2D-A1FD-412D-AFC3-0F5E07C7AD85

P2860

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

http://www.wikidata.org/entity/Q33738468

description

2013 nî lūn-bûn

@nan

2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@ast

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@en

type

label

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@ast

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@en

prefLabel

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@ast

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@en

P1433

Q33738468-4D65DC00-BA3E-46C2-BC5C-BD91F73A1FA3

P1476

Q33738468-D95A6D46-F6B9-4455-9D77-4449DC4E2133

P2093

Q33738468-0EB0311E-E51F-46A5-8A71-357045487BE7

Q33738468-18F95E42-5ABD-492E-87A4-386CE44828C0

Q33738468-1D35DBA8-FD4A-4571-910F-D85C0A6F2B79

Q33738468-31A618B4-CA2C-46F7-B1B2-86308F4426A7

Q33738468-4BBBF66F-9D86-4CB3-B4E5-53AFB01FE83E

Q33738468-6E29863F-026B-48D3-99F5-1DB375F95078

Q33738468-7D53FF45-993A-474F-BB51-F67F0207DA10

Q33738468-93C76C75-B6D2-4102-B6D6-A43E05A60503

Q33738468-99B3058B-C338-48DF-965F-0FCA3AFFCDD6

Q33738468-A2DEAC47-0ACC-4982-85EF-2720786DF4C4

P2860

Q33738468-015CF22B-2EDF-43AF-81FC-2492BBE02EDF

Q33738468-0447C15A-26F6-4AC9-B736-C9DCB016E2CF

Q33738468-0CC7BD54-15DD-4B2A-BF85-B195EB80D731

Q33738468-0EF4625B-9D56-44EA-99C2-AF353FC9E8DD

Q33738468-0F0F63AF-1285-4A28-8844-CB5A0DD1F816

Q33738468-14A422B5-8C2D-465C-BEF7-2B61AE88E30B

Q33738468-18A6FF4F-95EE-4826-804A-05511AD92D7E

Q33738468-2B8CFF65-DD90-4933-94FB-53D808EA9A12

Q33738468-2D1A949C-1899-41B4-818A-1F66E319F87C

Q33738468-2D5FCA0F-888F-4F4C-9585-06012E526A77

P304

Q33738468-A88EFDDB-77BA-4B45-A56D-38FB047A8BE0

P31

Q33738468-BD8527CD-444D-462F-8D58-77CC2B4A362C

P356

Q33738468-747E59EC-BA53-4184-AD5B-10847A522BB7

P407

Q33738468-3044B7CF-BA7C-44D4-8F58-486F91AB3165

P433

Q33738468-7297CCEF-EF74-48EE-95C2-010DE6597FAA

P478

Q33738468-B901D90B-018C-4088-8B33-216A226F42E9

P50

Q33738468-3885F9A9-B1B2-4324-847D-706D24AD4CB1

Q33738468-4A37070D-C884-4C3B-85D2-B4E80D7BE121

Q33738468-62863327-1CCD-4D76-B5A8-37AF3E049D24

Q33738468-6A6C8F3C-CDAD-4FAC-8AF9-7BBEA4A88264

Q33738468-93E2EF9B-CEF6-466F-BC4D-1F094AB879E2

Q33738468-B0A5BF65-98A5-42DA-A72C-062641894BBB

Q33738468-F6A073DF-117D-4BC2-9B76-D6EDA3951D4B

P577

Q33738468-C1BE840D-4803-4D49-8129-DB868D25B142

P698

Q33738468-1956BD2F-0BC7-44BD-9737-01EEC25493B9

P932

Q33738468-4F5D61DF-C087-4FEC-AD40-8EC7FADCB92F

P356

P1433

P1476

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

@en

P2093

Andrew Lux

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

Bryan Lynch

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

Cathy White

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

Daniel J Smith

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

Derek J Blake

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

Hardev Pall

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

Kathryn J Peall

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

Manju A Kurian

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

Martin Smith

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

Mary D King

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

P2860

The PHQ-9: validity of a brief depression severity measure

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

The MOS 36-ltem Short-Form Health Survey (SF-36)

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

The epsilon-sarcoglycan gene in myoclonic syndromes

Lifetime and 12-month prevalence of DSM-III-R psychiatric disorders in the United States. Results from the National Comorbidity Survey

Development of the Alcohol Use Disorders Identification Test (AUDIT): WHO Collaborative Project on Early Detection of Persons with Harmful Alcohol Consumption--II

P304

294-303

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

P31

scholarly article

P356

10.1093/BRAIN/AWS308

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

P407

P433

Pt 1

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

P478

136

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

P50

Jean-Pierre Lin

P577

2013-01-01T00:00:00Z

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

P698

23365103

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

P932

4052887

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