Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation - Test2 - elhamkhani - TriplyDB

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

http://www.wikidata.org/entity/Q24533431

about

The fragile-X premutation: a maturing perspective.Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome Fragile X syndrome: the FMR1 CGG repeat distribution among world populations 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 Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders The promise and perils of HDAC inhibitors in neurodegeneration Fragile X: leading the way for targeted treatments in autism.CGG repeat in the FMR1 gene: size matters A review of fragile X premutation disorders: expanding the psychiatric perspective Mouse models of fragile X-associated tremor ataxia.Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment 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.Climbing the branches of a family tree: diagnosis of fragile X syndrome.Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Pathogenesis and causes of premature ovarian failure: an update.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers Advances in understanding the molecular basis of FXTAS The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.Altered structural brain connectome in young adult fragile X premutation carriers.Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease.Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Associated features in females with an FMR1 premutation Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Emerging topics in FXTAS.Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.Genomic and epigenomic instability, fragile sites, schizophrenia and autism.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Genetics of primary ovarian insufficiency: a review FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice

P2860

Q24533443-C092F5E6-C78A-40B0-8819-49E792001671 Q24567980-989ECBCF-0D5F-4271-9F9F-C246277EB3DA Q24629837-129D4452-6402-40A3-8A74-52696733ADBC Q26853292-93500191-AA00-4584-BE01-AD9ECAD4AC97 Q26992035-B35145E0-04EA-42D1-ABEC-DD0CD0326BAB Q26996649-6670828C-A1C1-47AE-B14F-19D3453B3124 Q28077015-11C37EA2-D86D-4AA0-AF0C-F211CFE24381 Q28077980-E6F2246B-028C-486A-A1B5-43B589679A5E Q28087539-F941386E-682E-447A-8515-3D3D8A31D5DB Q30435321-ABA11332-C370-4DB7-9588-462FE9DC1E1F Q30464036-FD578001-5FF1-4848-AFD4-E214ED8B0793 Q33440958-06A9D865-0187-4BF7-A57E-EA111771F394 Q33477843-527276AF-3313-4C06-9CEF-51BFD2CE64E1 Q33477846-6CC27840-C8D5-40BD-9C84-28774BCDD7B0 Q33639492-963CC547-CFD5-4E45-A53B-FD583117B86B Q33649463-63277F59-E6C5-40F8-9935-EBB6E784B546 Q33671154-02F2228E-1DF3-4B7E-BE5A-512AB66689DF Q33684243-49769899-7796-4BD5-85C7-3D58D49B168A Q33728963-7DADF221-CDAF-4285-A8D2-B67E362FC48C Q33764453-4FF2E728-E5BC-4996-8C42-6C6198D5DF8E Q33781086-A518CEB3-0E63-4F8E-B909-BDFB6881A1A5 Q33846889-75AB487C-06FB-4E7E-A1A3-C1D0CDC0D850 Q33863331-39469D98-383F-4E69-997C-5E184EC78105 Q33871325-51BEB0D7-54E1-455D-8011-ABDCC1DA9B8C Q33901895-95D2F3B2-A0E0-4C03-B951-48FDFCF6FC54 Q33933968-E1ED1EC6-8605-47DC-BD6A-DA04F2C57AE1 Q33967902-062887AF-925B-4205-81D5-27B1692633CD Q33987114-582A5060-06F9-490F-9AE5-E8211760B08C Q34000722-45D30BBE-B1B7-41FA-9440-8130D630AA8D Q34046162-97780E85-E442-407C-B25E-1C9655316DE5 Q34055459-76801630-20D4-485B-B6C2-65FF22B6A6B6 Q34077088-0687436E-8007-437C-86D0-99BBF3DAED94 Q34231104-55333B43-740C-4BFA-820C-BF4651751C12 Q34329664-47C15C1C-2F54-4C44-8D9A-1ECFFE1D33B2 Q34479635-3F921F1F-C6A6-4CFA-883C-0A936C7A355F Q34575595-FE2655A2-060A-4368-88E7-2FDA0EB9B9F8 Q34603972-DA7BDDE8-7D54-4023-AD80-9D2843823C6A Q34721602-2B3943D4-C140-43A9-8756-94218ABF493F Q34983498-AB79A360-75DA-4B27-A2CA-93943BAE2ADB Q34984624-461980F2-611D-4DF3-BAB5-E41415B5D7CA

P2860

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

http://www.wikidata.org/entity/Q24533431

description

2004 nî lūn-bûn

@nan

2004 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի մայիսին 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

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@ast

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@en

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@nl

type

label

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@ast

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@en

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@nl

prefLabel

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@ast

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@en

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@nl

P1433

Q24533431-650E4923-97B7-4066-A64D-471A9C60B729

P1476

Q24533431-C4433CFF-ED49-41C9-A2D5-183EFD384ED9

P2093

Q24533431-0BBACF2C-E8CF-4388-9755-6F0E0DF124B4

Q24533431-0BC3FD84-80DC-4862-B409-3DB2966EFCB1

Q24533431-0D1EB8E9-AC31-4CE5-88F9-AF92509394B2

Q24533431-1A6D4F94-FD6D-4D38-BF3D-65FE2A02D532

Q24533431-34112626-F7D3-4207-9657-CEFBEA975FC7

Q24533431-3AFCF958-8BF8-49D3-B190-F2BED9D3C22A

Q24533431-6769F275-77AA-44BC-B9C1-B41F7D8D50D5

Q24533431-74C687AD-FB62-443E-A3C1-A87B8434F9AE

Q24533431-997D2D9E-692E-4D8C-B27B-E243DEC1B353

Q24533431-A0093049-BD2A-47B0-B7A8-A36B281FAA5A

P2860

Q24533431-06925F81-02ED-4BB6-87CD-7C5E72895CB9

Q24533431-3A99AC5A-5E10-4884-A4E6-05DB0AF4D127

Q24533431-46D5EE7A-2A7F-4E40-87AC-93C2E9CCF949

Q24533431-632031F5-BCF0-4D5A-9789-A15A09211C01

Q24533431-6B1D11CD-254F-40A9-892F-31F377E3E78E

Q24533431-6DC6EEF7-62CD-49F6-BD19-0137F65D0223

Q24533431-72C52D02-EA85-436C-9F33-348FA0B72B20

Q24533431-8635D388-09C6-46A1-9CB3-ADDF3D4EEF18

Q24533431-8FD992C1-D3BC-42BE-971E-9C13D872BAE2

Q24533431-92728265-F6BA-4203-A384-CB99BA8F6671

P304

Q24533431-EB9407EE-E8EC-4046-B898-D86C5386EBC6

P31

Q24533431-D42ABAA9-6C92-4F09-BA0B-9A36286EB72C

Q24533431-e1329a57-9459-4a23-8153-01a151ed1f4e

P3181

Q24533431-838C7D47-5605-4506-A384-3667FAD45F0C

P356

Q24533431-240FFDFA-AAAB-4B7C-A53B-E7DF8553A855

P407

Q24533431-BE3990B1-1697-4D79-8277-5C05C186D3A0

P433

Q24533431-4CF4B08A-E215-43CC-B323-728D932FC0E3

P478

Q24533431-A18F3B73-7F19-40E4-9325-D8D28931C9F4

P577

Q24533431-1250210F-5E0D-4592-A4AD-C80DDBF39551

P5875

Q24533431-7BC29473-A913-4A88-A474-69228F3202A2

P698

Q24533431-4A83188B-19F1-4793-B66D-88011FD4474B

P921

Q24533431-6A83EEF1-027C-4EF6-A006-4FC4DC4159ED

P932

Q24533431-A6A40BD5-1584-4030-9C3D-ACA8C3BE3343

P3181

P356

P1433

American Journal of Human Genetics

P1476

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

@en

P2093

B R Leavitt

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

C M Greco

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

D Hessl

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

F Farzin

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

F Tassone

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

J A Brunberg

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

J Ferranti

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

J Grigsby

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

L Ruiz

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

L W Gane

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

P2860

The fragile-X premutation: a maturing perspective.

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

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

Aging in individuals with the FMR1 mutation.

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.

P304

1051-6

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

P31

scholarly article

P3181

2972618

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

P356

10.1086/420700

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

P407

P433

5

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

P478

74

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

P577

2004-05-01T00:00:00Z

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

P5875

8636631

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

P698

15065016

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

P921

fragile X-associated tremor/ataxia syndrome

P932

1181968

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