High-throughput mutational analysis of TOR1A in primary dystonia - Wikidata - awgldk - TriplyDB

High-throughput mutational analysis of TOR1A in primary dystonia

High-throughput mutational analysis of TOR1A in primary dystonia

http://www.wikidata.org/entity/Q33417896

about

Clinical and genetic features of cervical dystonia in a large multicenter cohort Meige syndrome: What's in a name?An African-American family with dystonia Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.Novel THAP1 sequence variants in primary dystonia.Mutation scanning of peach floral genes.High-resolution DNA melting analysis in clinical research and diagnostics.Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis The DYT1 carrier state increases energy demand in the olivocerebellar network.Blepharospasm plus Cervical Dystonia with Predominant Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia?An examination of TOR1A variants in recurrent major depression.Neuropathology of cervical dystonia.Blepharospasm in a multiplex African-American pedigree.Dystonia: phenomenology The genetics of dystonias.Recent advances in the genetics of dystonia.The focal dystonias: current views and challenges for future research Pathogenic variants in TUBB4A are not found in primary dystonia.Clinical and demographic characteristics related to onset site and spread of cervical dystonia.Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

P2860

Q27312339-71FB8963-E084-4191-B382-DEB4C3BE132A Q27489607-60F65F2F-B36B-47A6-9A3C-974B505C84FD Q30502518-366FE7C9-48FB-47DC-84AB-132B7581BAEC Q30514157-A1980EC8-C117-4C86-AA50-8378447FC260 Q33601311-5F0683ED-3B8D-418C-B715-70DB0040D76C Q33909450-1D1E493D-395E-417D-A1A3-FF17E2AB92AE Q34102903-D44F7106-A167-4ACF-9608-9A35DE2B9E8A Q34109942-A22D2192-0DA5-4453-8A6F-BF10D152B1BD Q35210345-CB33B637-4786-40F1-AE64-DC418C6D1374 Q35658125-8C3B8C98-AEA9-4878-B820-8D28F457A8E2 Q35862687-D1D2AFF3-D2F2-4F70-900D-B249F8D76535 Q36605114-99AACD1B-D340-4350-87EE-DCB3C7FD267C Q36655177-764BEE98-A4F4-49C4-9055-7935DDAA19CC Q36909009-BE8EB908-1244-4DF3-902B-B5EBC9210AC4 Q36934972-A43D80BE-95D4-4C00-A489-191B0B4A14B4 Q36950726-E6402457-398C-40F0-B24E-44475D250B9A Q37070290-70B949D2-10CF-420C-95C6-7C4351180261 Q37725916-6CFD9F19-24E3-4FBE-ABE1-78C08C46E6BA Q39278687-1B0BE1FA-D5F2-4AD6-8694-356E5B312A1F Q46539946-9DB7F2D0-5C8C-4C90-BFB1-D684B2EC15F7

P2860

High-throughput mutational analysis of TOR1A in primary dystonia

http://www.wikidata.org/entity/Q33417896

description

2009 nî lūn-bûn

@nan

2009 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի մարտին 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

High-throughput mutational analysis of TOR1A in primary dystonia

@ast

High-throughput mutational analysis of TOR1A in primary dystonia

@en

type

label

High-throughput mutational analysis of TOR1A in primary dystonia

@ast

High-throughput mutational analysis of TOR1A in primary dystonia

@en

prefLabel

High-throughput mutational analysis of TOR1A in primary dystonia

@ast

High-throughput mutational analysis of TOR1A in primary dystonia

@en

P1433

Q33417896-CB325409-D3EB-4657-8F18-5FDCC2726525

P1476

Q33417896-44ECF6BE-F150-49A0-AD10-4F0F9B9E619B

P2093

Q33417896-14863F9C-7E11-4DD2-A0EB-FF4D0533F3E0

Q33417896-42DA38A8-42B7-4636-98DB-01A5021A3FBB

Q33417896-4790CB87-E3AE-41D0-A22E-8D8A63CEE8F1

Q33417896-57BC3466-4089-4C65-976A-D35A35B8E5FC

Q33417896-620A8A59-48E9-458A-90AB-B69F62121184

Q33417896-669767D9-6D58-4776-AC37-484823B81B0A

Q33417896-75D22ECA-950C-4E8D-A308-6D47D754F70A

Q33417896-7655329B-5B53-4E6C-A129-1AD868478AA5

Q33417896-7898352E-E0DC-45DE-88BB-3970F7AD956E

Q33417896-9475C5C3-0981-4005-B665-F7074DB26FA7

P2860

Q33417896-0225BDC0-E1DF-42F4-9CE3-6CA661AB42BF

Q33417896-054B2BB7-6CB7-4AF4-92B0-DAC9F5CB43EA

Q33417896-06FFD004-6FB3-4B1D-97C5-6D0076058875

Q33417896-0D35CB61-AD10-459B-9A14-EEEF9270AAF9

Q33417896-163E2DCA-62EF-4AB6-B2E7-B40BFF8E54E9

Q33417896-21B6FE1D-80C4-4935-88CB-4253D8DA1750

Q33417896-2751E060-CCE0-49AB-B376-C99A3980C62C

Q33417896-2AB6B054-DD56-41FC-9839-910022998CAC

Q33417896-2D411433-BF12-4BF0-B3D7-80E4E81ECF63

Q33417896-30CC3D4C-CB9C-4A07-9256-6968A7D4ED1C

P2888

Q33417896-2B3115A3-D265-4F16-8432-65991A835CEF

P304

Q33417896-F43E9DC8-79F8-440B-A29B-69F8F23810B4

P31

Q33417896-DB4CFA58-F98A-4300-A53B-BF6D14B434E0

P356

Q33417896-B5845F11-FD4A-46F2-A0E4-B4C78CD0CB54

P478

Q33417896-C7416F12-F03A-4606-889E-012C9116C758

P50

Q33417896-95C8E485-1E09-4210-8DFE-5951BFE56523

Q33417896-AF7B1571-B017-425C-BACA-99D01633E62C

Q33417896-D67A41F3-5E66-4A6E-9296-FD5E61802BC0

P577

Q33417896-2825919D-1BC2-4119-B8E9-E2E3876D998F

P5875

Q33417896-91B9B435-1CB7-4DE8-A9AF-F6518550842B

P6179

Q33417896-7D54A1E6-CB93-497B-9539-E58B68DEB25C

P698

Q33417896-341EA047-735D-417A-86F6-4321083283A8

P932

Q33417896-71893A18-BA57-4260-B7A9-ECCD0F3A06E2

P356

1471-2350-10-24

P1433

BMC Medical Genetics

P1476

High-throughput mutational analysis of TOR1A in primary dystonia

@en

P2093

Andrew Blitzer

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

Brad A Racette

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

Daniel D Truong

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

Daniel Tarsy

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

David K Simon

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

Jianfeng Xiao

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

Karen P Frei

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

Mark S LeDoux

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

Morvarid Karimi

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

Peter Hedera

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

P2860

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia.

Blepharospasm: a review of 264 patients.

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

High-resolution DNA melting analysis for simple and efficient molecular diagnostics.

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

DYT1 mutation in primary torsion dystonia in a Serbian population.

Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

High-resolution genotyping by amplicon melting analysis using LCGreen.

P2888

1471-2350-10-24

P304

24

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

P31

scholarly article

P356

10.1186/1471-2350-10-24

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

P478

10

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

P50

Zbigniew K Wszolek

Joel S Perlmutter

P577

2009-03-11T00:00:00Z

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

P5875

24199281

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

P6179

1029006039

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

P698

19284587

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

P932

2661056

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