Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population - Test2 - elhamkhani - TriplyDB

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

http://www.wikidata.org/entity/Q28241139

about

MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation The fragile-X premutation: a maturing perspective.Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome Advances in the treatment of fragile X syndrome Facile FMR1 mRNA structure regulation by interruptions in CGG repeats Fragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndrome 5-Hydroxymethylcytosine: A new player in brain disorders?RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome Unstable mutations in the FMR1 gene and the phenotypes Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders The unstable repeats--three evolving faces of neurological disease Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology Fragile X tremor ataxia syndrome and white matter dementia.Fragile X: leading the way for targeted treatments in autism.Consensus characterization of 16 FMR1 reference materials: a consortium study CGG repeat in the FMR1 gene: size matters The role of fragile X mental retardation protein in major mental disorders.Twenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care.Covariate adjusted correlation analysis with application to FMR1 premutation female carrier data.A review of fragile X premutation disorders: expanding the psychiatric perspective Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment Fibroblast phenotype in male carriers of FMR1 premutation alleles CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome Fragile X syndrome: a review of clinical and molecular diagnoses.Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

P2860

Q21144918-CE8BDC79-267E-44BC-A0FD-98AB81E3BD73 Q24533431-06925F81-02ED-4BB6-87CD-7C5E72895CB9 Q24533443-853F7401-151A-4A1F-BB91-C9A387055069 Q24567980-C117AA59-D245-4745-9646-9499AA6356D1 Q24632814-65121D2D-7FFA-43F1-9F2A-83F4FF6A871D Q24801535-B0D9BD37-5D7E-4277-8686-35CAEE9A9B0B Q26852667-7DD9559F-0AE7-47E5-B3B3-D74A5DBC20C7 Q26852891-2CCE2713-D809-4C9C-B376-02921DE960E2 Q26853292-21E0BBD1-E367-475E-A932-1A8B2C575D6B Q26992035-AFB5672C-172A-4BE6-90BA-54A45D7DE6F1 Q26996649-53502596-39DC-4D60-B032-FEF36C0B9047 Q27011565-ED8365A7-0A60-4117-9C4D-8BE83D46D472 Q27025923-3F7C9026-625C-44CE-9ED7-14F6DE0C771D Q28073062-23E7106C-B9FF-4531-8B3C-3B3EA314BB51 Q28077980-68DB04A8-A764-4A19-8AC9-B095D41780C0 Q30249226-BA6EC882-DB0E-4B70-9879-45453BA88B50 Q30249228-2931C0C6-3F47-4240-ADC3-67E88D750A47 Q30435321-63915DB8-27C5-4EEF-9013-05052B95E2B4 Q30440559-ED3D1727-F2BC-4AEF-929F-BE88917EAFEE Q30464036-9A0CC013-02DB-4A77-98AE-B3C941B33D50 Q30467175-F588999A-9D1E-4C67-81A9-774DFEDC8159 Q30483973-E8CB5856-B2B9-4F8C-B26F-9FE7C26C5AF4 Q33403351-7E5DE894-4134-468D-ADAB-0ACBD496D7B7 Q33440958-CE246C43-9D23-47A8-B922-2DE8B32D5142 Q33477846-C76EE950-2263-4EBC-A684-D9271F3F789E Q33552176-D6F93CE5-A86F-4DF6-BCE6-04F94233E135 Q33567772-6BA5858C-5624-4BAB-A04A-2CD362F58A2D Q33570563-D36D213E-68BD-428B-9165-ED155A7692A8 Q33576328-65247E3C-A135-427D-9F98-BEBECCCF8355 Q33617809-18C5AA19-4668-4DBC-8DF4-201A7EF41074 Q33637452-B64ED90E-7EF0-4DD6-A6CF-A864BB354146 Q33639492-2A56DF5E-66CC-4A98-A5A8-13A301199013 Q33649463-2F283A7A-A13C-4CA2-8B96-71BFA3039466 Q33684243-49223C16-F85F-44BB-A5BD-31587725B356 Q33706961-1AA6CE03-FF77-4284-A72C-EC1D9527B29F Q33775485-5083290E-53AD-4617-85DB-1ADF4CE24897 Q33775794-CF107474-161F-40FF-A95F-76CD2C44ECA5 Q33781086-A0134FCB-604E-408F-9127-4CE48DB39193 Q33863331-7F060F2D-7F8A-44EF-BA00-F6890F7F2B03 Q33901895-3DC17EA3-B861-443F-9D53-7A29C2B98B8F

P2860

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

http://www.wikidata.org/entity/Q28241139

description

2004 nî lūn-bûn

@nan

2004 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Penetrance of the fragile X-as ...... premutation carrier population

@ast

Penetrance of the fragile X-as ...... premutation carrier population

@en

Penetrance of the fragile X-as ...... premutation carrier population

@nl

type

label

Penetrance of the fragile X-as ...... premutation carrier population

@ast

Penetrance of the fragile X-as ...... premutation carrier population

@en

Penetrance of the fragile X-as ...... premutation carrier population

@nl

prefLabel

Penetrance of the fragile X-as ...... premutation carrier population

@ast

Penetrance of the fragile X-as ...... premutation carrier population

@en

Penetrance of the fragile X-as ...... premutation carrier population

@nl

P1433

Q28241139-0BBC0B7F-6A70-4223-900E-EC9474B23EAE

P1476

Q28241139-9655372A-543A-483C-93CE-B8B8C1ED9D87

P2093

Q28241139-0094F973-2CCD-4EF9-9B68-460E5F1FCA59

Q28241139-07F24B9B-3204-427A-B88C-D61D892496A3

Q28241139-08E4372A-AEB4-4BC0-9A25-54E1D9767317

Q28241139-12310D1C-B892-4541-BDA9-C7499E8BC628

Q28241139-26DC40C5-DF73-479B-9E60-C448E64DAD6B

Q28241139-30E6B87B-1618-42E5-B4B2-94CDC5092525

Q28241139-37D6D2FC-61B7-4F8E-8C48-EB7C6526B782

Q28241139-5AADEC74-6E42-4EB6-9540-08BA116D400A

Q28241139-657EDFDD-7ED7-408A-A83E-2F02519B1085

Q28241139-661A3094-443F-4D51-B763-4715A6604DE9

P304

Q28241139-94C4C65E-6551-47C9-8FC3-98E37DCF83B0

P31

Q28241139-A60D1397-E69F-4A87-91A0-1DDA55799749

P3181

Q28241139-B7EDBFA2-01A5-4D75-B453-D255298E31AB

P356

Q28241139-09819511-9709-4549-8F8C-5ADDFB59163D

P407

Q28241139-A0ACE4F6-1CFD-46A0-B3DC-7D40CA9B83FC

P433

Q28241139-6FDCEB45-A813-480D-B3DD-82D7C75F9A14

P478

Q28241139-C2836A0C-9F06-4B1F-A2D9-C53CD5BBD5ED

P577

Q28241139-126992C4-B904-4FA4-BDE1-294AF97E57F3

P5875

Q28241139-BA837761-3412-4CE2-9C4B-776AEE8BF2A8

P698

Q28241139-2268AB31-19D9-4E33-A32F-BFF7B27DA151

P921

Q28241139-3DD5E254-82D0-458F-B53D-BBE224A1EDC0

P3181

P356

P1433

Journal of the American Medical Association

P1476

Penetrance of the fragile X-as ...... premutation carrier population

@en

P2093

Claudia M Greco

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

Deborah A Hall

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

Elizabeth Berry-Kravis

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

Flora Tassone

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

James A Brunberg

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

James Grigsby

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

Kristin Herman

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

Lin Zhang

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

Louise W Gane

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

Maureen A Leehey

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

P304

460-9

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

P31

scholarly article

P3181

2858147

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

P356

10.1001/JAMA.291.4.460

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

P407

P433

4

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

P478

291

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

P577

2004-01-28T00:00:00Z

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

P5875

8898684

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

P698

14747503

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

P921

fragile X-associated tremor/ataxia syndrome