Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. - Wikidata - awgldk - TriplyDB

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

http://www.wikidata.org/entity/Q46986726

about

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Frontotemporal dementia: a bridge between dementia and neuromuscular disease RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome Drosophila as an In Vivo Model for Human Neurodegenerative Disease Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Frontotemporal Dementia.Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.Repeat-associated non-AUG translation and its impact in neurodegenerative disease.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.ALS biomarkers for therapy development: State of the field and future directions.Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

P2860

Q26782984-2068462E-3D88-4DF0-9C23-CED6D963A998 Q26799091-AAFAF91E-6035-4832-8C9F-F6E3F08CBEA5 Q26823908-88C3C925-ED0E-4EC9-B8F4-5F4CDB7D0F11 Q28080628-5C494E95-81F5-49F8-9D11-5A260F1735A3 Q28081198-0F6D1A2D-295A-40AC-952F-D05115C7BA0B Q28082520-4A10C2A5-1E3E-4AAA-B394-A038B5E2D4D7 Q28084249-BFF5D126-53BE-4BAE-82D0-45CFABCDE754 Q28088777-1A8C449F-8A7F-4D01-9230-4518299B855D Q28468581-DC70A1AA-1F4A-4AD2-9623-F799765D8ADD Q30234793-630AF166-B7A5-4364-80A0-535497529FDA Q30313960-0BDAF324-33E3-46F8-99AC-B70628E3B487 Q33614771-DEBA082A-3FE7-4BD5-9BFF-F432248DFC37 Q33614811-2290CCB4-1C9E-44FB-A1B2-042D5B57D521 Q33653996-C67421C8-D79E-4691-8CAF-C9075D2E2DC1 Q33784052-3CAD4E61-C67E-4A95-B6FD-ABD7736BF5FE Q33821516-757E0619-2135-4583-8504-54C27F031CC0 Q33863540-E31FF0C5-0B14-48C8-9DDE-3D939DC4F074 Q33875570-8D87854C-3A23-4E6E-909A-8EE02777ACAD Q34157304-B8F74713-08B1-484C-92F1-3A6E75949B33 Q34167443-C0DFD446-CE56-4F6A-A692-68E33161A12F Q34194063-F71371FA-0C11-416B-B335-BC0B308388C3 Q34396046-ED1A5EBD-0196-4881-B6AE-9C41B3ED906F Q34500097-3D0BBC59-4AF1-41E6-96EA-99BFF8D83DC0 Q34543709-3E289F77-CFC1-499F-BD86-E43F426E5F47 Q35082648-C7CFE619-BD41-4E82-807A-42D83F52E7FE Q35184485-94A8FE00-6FA9-4EE8-9653-65542A874D80 Q35204586-CACCCFD5-0661-4637-BA61-551596DB9888 Q35340115-B7F77E88-3C8F-455F-A2C3-549491BFE51F Q35537493-70C4F97A-7729-4CF6-997B-BE24A0DDC75B Q35643260-F525708A-4225-4FF8-8BDD-EB8B0AA208F4 Q35746397-9C6C1AEF-7A53-4C9A-8F64-B219D9204400 Q35776562-2294CEA3-27AD-4D4D-89AB-002D2FDB03D1 Q36073660-59A28B17-11BC-4B0A-A927-F88595B74088 Q36073675-669D7D20-41F0-4780-90F9-C9DFE6E59E76 Q36304922-58562AB8-361C-4863-BE2B-449FEF6596D7 Q36407722-E2242E50-EE16-43CF-A8C6-FC4466F534B6 Q36479616-32F8A517-4F41-4D74-8FE4-C3C948E796B9 Q36799853-08282F91-18A2-4B01-92F9-FB8A976E3915 Q37068280-073AE28C-FBE3-4C6F-AC33-B580E7DAB980 Q37094833-B8C0E19D-B721-4EB7-8151-039EB48AD93C

P2860

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.

http://www.wikidata.org/entity/Q46986726

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Dipeptide repeat protein patho ...... ico-pathological correlations.

@en

Dipeptide repeat protein patho ...... ico-pathological correlations.

@nl

type

label

Dipeptide repeat protein patho ...... ico-pathological correlations.

@en

Dipeptide repeat protein patho ...... ico-pathological correlations.

@nl

prefLabel

Dipeptide repeat protein patho ...... ico-pathological correlations.

@en

Dipeptide repeat protein patho ...... ico-pathological correlations.

@nl

P1433

Q46986726-3CBDC551-483A-4733-9064-BBA6241C7A61

P1476

Q46986726-B98D6EC4-B61D-4E9E-B423-27C6D83F9189

P2093

Q46986726-0A49FE0C-AB0C-42B6-958A-63B2020726F6

Q46986726-37764319-A773-4AAD-9713-9A473E00833F

Q46986726-5727E4FC-AB29-43D3-9E83-F516D575A2B8

Q46986726-ABEA60E1-B509-4C0B-B55B-9CB21B3478B2

Q46986726-BC5C2FA8-05C9-424A-A9DC-8240C0A18E5F

Q46986726-D4E464D4-7814-4893-AE4A-E7A0B0600F66

Q46986726-E2BED6A9-5F13-4858-8D48-0225EBEE4E03

P2860

Q46986726-04A8220E-DAA0-49CB-98A6-3EDD8365ADD7

Q46986726-299A5F57-7769-4734-B674-B04E246AB7BE

Q46986726-2F07281F-5A87-414E-8F49-C0D7327973A6

Q46986726-37679CD2-E566-4751-B48E-039CEBBE3A3F

Q46986726-3B347227-6B8C-4C42-B484-531F5F97F264

Q46986726-491FD992-7BB0-441F-8016-0CC3885B199D

Q46986726-68C3444B-3070-4127-BB4C-8C1F01BEC6E9

Q46986726-6A5B7369-9519-49D3-8FA2-8E185B2DAAEC

Q46986726-6C5B9C0E-55F3-4E35-AAED-CF37BB72CE14

Q46986726-6DA82D7B-E205-431C-9095-89BB6C381840

P2888

Q46986726-074D39CE-8078-49F1-A778-F82C05654F7E

P304

Q46986726-2200D812-BBA6-46A1-9A24-5D6AA85FECCD

P31

Q46986726-9073399E-2597-4555-B164-1B4244F770F8

P356

Q46986726-BD18A583-A30F-4BE7-8069-3223B84A1B02

P433

Q46986726-E050DAAE-6207-448A-9E93-4ADBE83BE55F

P478

Q46986726-E92A6F71-9700-4D2F-8ABE-5961CDBE618D

P50

Q46986726-401C1F55-DC59-4E7B-A082-742B6C19269D

Q46986726-564B7E2C-E1FB-4CD1-8FCF-BF9282B8BC98

Q46986726-5D37B1FC-79EC-4ED6-A63D-0A81C889654A

Q46986726-E4DA021E-D291-4992-85F6-F7775ECE2821

P577

Q46986726-B4AEE590-71C1-429A-A573-D983175CF0D9

P698

Q46986726-00DC8798-C084-468B-B62F-06BB7D56BD75

P921

Q46986726-a0bb29bc-fb0d-45f0-8f89-d50a9b897196

P356

S00401-013-1181-Y

P1433

Acta Neuropathologica

P1476

Dipeptide repeat protein patho ...... ico-pathological correlations.

@en

P2093

Dirk Troost

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

Elisabeth Kremmer

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

Hans A Kretzschmar

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

Ian R Mackenzie

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

Shih-Ming Weng

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

Stefan Lorenzl

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

Thomas Arzberger

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

P2860

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

A harmonized classification system for FTLD-TDP pathology

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Toxic RNA as a driver of disease in a common form of ALS and dementia.

Non-ATG-initiated translation directed by microsatellite expansions.

P2888

s00401-013-1181-y

P304

859-879

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

P31

scholarly article

P356

10.1007/S00401-013-1181-Y

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

P433

6

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

P478

126

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

P50

Christian Haass

Manuela Neumann

P577

2013-10-06T00:00:00Z

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

P698

24096617

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

P921