Titin mutation segregates with hereditary myopathy with early respiratory failure. - Wikidata - awgldk - TriplyDB

Titin mutation segregates with hereditary myopathy with early respiratory failure.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

http://www.wikidata.org/entity/Q35986692

about

A multi-platform draft de novo genome assembly and comparative analysis for the Scarlet Macaw (Ara macao)Mitochondrial genetics Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Myofibrillar myopathies: new developments.Mechano-signaling in heart failure Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy Desminopathies: pathology and mechanisms.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study Increasing Role of Titin Mutations in Neuromuscular Disorders.Filamin C-related myopathies: pathology and mechanisms.A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.Exome sequencing: how to understand it.Structure of giant muscle proteins.A rising titan: TTN review and mutation update.Diagnosis of muscle diseases presenting with early respiratory failure.Hereditary myopathies with early respiratory insufficiency in adults.Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Atypical phenotypes in titinopathies explained by second titin mutations.Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.Hereditary myopathy with early respiratory failure: occurrence in various populations.Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.[Titin-related muscle disorders: an expanding spectrum].

P2860

Q21090760-C84CBB9D-2000-4C1B-B1F5-269739BCB6BF Q26849285-14D06FC8-7042-4532-BFC0-475152CF8835 Q30234440-0678D93A-CE28-4F51-8C73-24901FB8DDAE Q30433575-0BDD0429-2F61-4E6E-BA67-8B3A2032F6A1 Q31135460-92AB9215-6A0B-4D7C-BFF4-F622D3100F0C Q33663368-3C120E6A-995E-4548-8767-386E3B903050 Q34146828-A151DED4-D313-47B1-869D-6A4307A330BA Q34459716-77B8BCD5-14AC-4BC9-A99B-206F3428E670 Q34628389-BCEB4A5E-69AE-45AC-BD1A-706F3D7859E7 Q34744001-17A3FFA6-923F-4354-9498-9CB4E5F5379F Q34779932-67183989-B662-4DCC-A231-AC3AB5B89AFB Q36405878-A19C10AC-239E-48C9-97AB-96E4508576A6 Q36503373-E145DB4B-714A-43F8-97BD-BAFD45537AB6 Q36729177-C6C0B30F-2B3C-4534-BF70-68FC882E73A0 Q37227067-A501B5D3-6758-4D03-90A8-E0B22389D0D9 Q37265157-BCB08674-0376-410E-954F-EC0B42BA8935 Q37441312-A28C0045-3633-41FB-BAF6-44580A9EE256 Q37450673-4794F90F-A363-46EA-9244-9B7234706CB7 Q37706521-93B93130-F48D-45A3-9F6F-FBFF12C4B374 Q38065979-15D4E366-6AA7-4C8A-9E74-95F6F43DB669 Q38088972-06753393-D35D-4CBD-9295-926173E92B73 Q38111181-C2BFE9AD-DACA-4024-8DDA-88618A6956F6 Q38174598-97E3E2CB-DEF2-43BF-BB39-AC0202C3E858 Q38224878-1952D39B-6306-45EE-9558-9232B52D3593 Q38265872-D6D3E612-3A63-42DC-B0BF-1883E5A434B0 Q38970452-D994526A-E88A-44A1-82DE-B24018F1538D Q39067296-81160534-E824-4533-BB47-B4F941C8EDA7 Q39980386-170202C4-C113-4613-AEFD-FF8A9928422D Q42406501-60E62352-B30D-47C2-A50C-65C258F95BA1 Q42678271-691D73F2-4582-4064-B23A-82B52D45B850 Q43922742-B6CB1EA2-558F-41D5-A0E5-362BB72E427D Q44099917-58B3D1CF-506C-49E3-86A9-201CA741E647 Q44799266-2135F18F-A850-4175-8AEB-3590A1EA74D7 Q45138496-E1550082-7BEF-4DD5-9658-4838E0E3AF5B Q45199558-1CAA8F33-FFBA-4C60-8619-7C66D6DD94B3 Q45838995-2C513349-67D9-4F1E-9A0A-0C64631F0CBF Q45934258-4ABB0EF9-9981-4EB6-AD68-570634959DCA Q47674425-2F25D398-B301-4418-96F3-42C38F3A8066 Q48266921-E758190B-08F3-4D27-95FB-52830076C70B Q50008331-0C7934E0-C74B-45C6-AD68-FDC8AE5F57BC

P2860

Titin mutation segregates with hereditary myopathy with early respiratory failure.

http://www.wikidata.org/entity/Q35986692

description

2012 nî lūn-bûn

@nan

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

2012年论文

@zh

2012年论文

@zh-cn

name

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@ast

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@en

type

label

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@ast

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@en

prefLabel

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@ast

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@en

P1433

Q35986692-83290E18-BDA0-4175-B336-9A218BB84082

P1476

Q35986692-CAEF7CEE-AC29-4597-B98D-44B42206D3E7

P2093

Q35986692-47A5922C-4C6F-43CB-9711-09286F010F9F

Q35986692-7FC94FB9-32F0-4187-AB96-F6317EE7CB28

Q35986692-82F283F4-1751-4257-B3A3-84B941C5B389

Q35986692-8BA5403F-5432-4242-B896-A4430F2D2BFA

Q35986692-AB413B3E-72DE-4EE7-90DA-4762712D7618

Q35986692-C6C65058-4168-42DE-AB4A-6FF9D037CA79

Q35986692-CF04AAEA-C5DC-40A0-82FF-06DDEA526BF7

Q35986692-F55FD267-BEB1-4EE7-AF45-D10470E06B0D

Q35986692-F7C8F800-4325-424F-8B38-C2314145F99A

P2860

Q35986692-0D4F2387-A9D3-40A0-B96F-322A845B787A

Q35986692-0D7634AB-AEB0-463F-A17E-DA429EF1F4B8

Q35986692-12E712B2-0405-4340-AE0A-A2E977BC4680

Q35986692-21633113-E522-436C-8AC0-64961BBAA036

Q35986692-23D26283-9DC7-445D-85B0-E72F438C44F9

Q35986692-26919875-F6A0-4102-BB9E-008B94E3D0AA

Q35986692-2894F952-93FE-434D-A161-6DBF3D81DBEA

Q35986692-39470D02-32C6-4360-92FF-DDC4E49E1696

Q35986692-397470A8-5A94-4BA2-8FB0-D0B3DD000300

Q35986692-441319D6-ED1A-4A14-B030-AE9039E4CE2D

P304

Q35986692-7B2E3E19-DB16-441E-B960-8014FF5D5B29

P31

Q35986692-705793EE-A529-4F1D-88B4-A0C581F03A61

P356

Q35986692-ACC2D581-C5CA-4D3C-9523-10E2A3BE2C34

P407

Q35986692-6752218C-7311-4122-90D3-BD1BBC235595

P433

Q35986692-D6CB7850-AD06-466B-9AD9-FF3DEDE78526

P478

Q35986692-15BA1D28-FA7F-42F2-9A20-CDC00AEF4B07

P50

Q35986692-0740FC4E-89AA-4813-8F83-22607B1FBBCD

Q35986692-5B394DEA-E0AD-4FF5-B259-6526973E6779

Q35986692-6CA0224A-8BE1-4335-8E0B-8A30950A7C2A

Q35986692-A5934A27-5367-49A2-B0D0-79A0F2193F2E

Q35986692-CE67E4EB-8C2D-4F63-945C-BCCD72DDE132

Q35986692-D5064A4C-7A9A-4B29-980A-F7AE7D1342A7

P577

Q35986692-3F2C389C-D911-420F-87E3-FD93361D9653

P5875

Q35986692-3AA37946-CC09-4361-8187-1C31AE0298D1

P698

Q35986692-71A74C3A-AB10-429C-AC9B-BFE1C616D47F

P932

Q35986692-DA446C31-D366-4FE0-968A-325BAF7C0F8E

P356

P1433

P1476

Titin mutation segregates with hereditary myopathy with early respiratory failure.

@en

P2093

Anna Vihola

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

Anni Evilä

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

Bjarne Udd

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

David J Dick

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

Hannah R Elliott

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

James Miller

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

Julie Marsh

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

Peter Hackman

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

Rita Barresi

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

P2860

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

The Sequence Alignment/Map format and SAMtools

Myofibrillar myopathies

Fast and accurate long-read alignment with Burrows-Wheeler transform

MutationTaster evaluates disease-causing potential of sequence alterations

Allegro, a new computer program for multipoint linkage analysis

Muscle assembly: a titanic achievement?

Dindel: accurate indel calls from short-read data.

P304

1695-1713

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

P31

scholarly article

P356

10.1093/BRAIN/AWS102

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

P407

P433

Pt 6

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

P478

135

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

P50

Patrick F. Chinnery

Mauro Santibanez-Korev

P577

2012-05-09T00:00:00Z

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

P5875

224940377

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

P698

22577215

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

P932

3359754

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