Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
about
Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision MedicineEpigenetics and Triplet-Repeat Neurological DiseasesAdvances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum DisorderFragile X spectrum disordersFragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndromeFragile X syndromeThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveThe Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and TreatmentAdvanced technologies for the molecular diagnosis of fragile X syndromeNanomolar bifenthrin alters synchronous Ca2+ oscillations and cortical neuron development independent of sodium channel activityPhenobarbital use and neurological problems in FMR1 premutation carriersPremutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.Matrix metalloproteinase-9 deletion rescues auditory evoked potential habituation deficit in a mouse model of Fragile X SyndromeMemantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Differential increases of specific FMR1 mRNA isoforms in premutation carriersFMRP regulates an ethanol-dependent shift in GABABR function and expression with rapid antidepressant properties.PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.Fragile X Syndrome: Prevalence, Treatment, and Prevention in ChinaTowards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation CarriersGenetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model.Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.Associated features in females with an FMR1 premutationMouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeExpression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.Emerging topics in FXTAS.Genomic studies in fragile X premutation carriers.Fragile x premutationHealth and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency.Modulation of the GABAergic pathway for the treatment of fragile X syndrome.RNA-protein interactions in unstable microsatellite diseases.ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI.The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug DiscoveryFragile X mental retardation protein expression in Alzheimer's diseaseMolecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersPharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes.
P2860
Q26768648-2EA457E9-EB38-46FF-9C77-FA99086F3840Q26770705-28F1CE31-5C7A-4039-B7CD-1607CB55441BQ26781265-143CBEFF-87BE-4DB5-8497-A7D8CBAD0AB1Q26824376-E7B15810-8F40-4D29-A5B1-C2E9E407D833Q26852667-2499E723-93AC-42F8-BC3F-D6835F97425FQ26852891-4BCFED4C-678D-48FC-AB36-EA03EB484208Q26995168-62E570D3-4C7F-4ABD-9BFA-EE837E36C894Q27010529-6B7B27A2-6E71-49B3-B52B-3CC5E524FCAAQ28081659-9E41E767-6694-4DD9-BFF2-9F65D176DFADQ28087781-6733171C-0EB1-46C1-B34C-4F00CF78F45CQ28382895-50FE68FC-7350-473F-90E6-73B0C1C02AA8Q28390629-9AAC4463-6B70-48AC-B2A4-DA72298FEDDCQ30008925-4144F05D-8F38-4087-BCBD-7474B4C7019FQ30357779-27D76DF2-3E97-400A-B930-9FD5F85E6A81Q30593573-EFD2EEB0-3257-4153-AD27-527879C4B679Q30638597-27FD67F1-D63C-4D3E-8378-459E77F11974Q30819120-ECE5063E-D7E2-471E-94C9-97237D3ACA5DQ31102811-099CEE8E-3867-42D9-908C-FE9FCD8EB07AQ33567772-D72DA292-D2BF-48B5-964B-BC5F59151C4BQ33604446-2F568532-7E7D-4A01-BB87-D4A92D8EDC5AQ33625894-A94FEED4-FB95-490F-A125-CA0BF115DA08Q33629743-B9D9E6E1-EE6E-4445-AD94-CD64A8B60645Q33766106-8E968E9B-4D47-4900-93EB-BE139FFABC3AQ33863331-754FDB30-AE75-4315-8A83-839087BEE32CQ33935973-D53907C9-CFD5-4A21-820D-F1ADB60A7112Q33969311-2A47015A-8E8C-4C09-9F9D-3178CA5A9A3BQ34000722-2D760A4F-F201-4FB8-B151-4BEDBDDD5B1EQ34055453-AFF7B74B-4007-43D8-96B4-9528B3A4B78CQ34074523-8B81CA37-E95E-4C8F-A16C-0A4D1C43F042Q34077088-03F6208A-6D55-463F-A7FB-D63722939846Q34101247-16F88286-0F67-4E07-9E1E-40494DE67BA3Q34103024-A05A98D1-287E-4CA0-A867-C30C43FF5ADEQ34148608-67AAD870-E74E-4135-9126-85EC72DBE2DDQ34230612-7842417C-17A7-401D-BFEA-968985A2B1B7Q34243144-C161B6E4-616C-44EB-82BA-F7C999125135Q34324687-4191052C-0AF2-4FE5-9395-40931878D017Q34428986-5FAD55E0-1D1C-4D7B-AF73-3D978367C09AQ34521866-1B6C5A85-3A47-4BB3-9CB0-23B54E65A4D4Q34575595-F2260D1B-0480-48B7-A5AD-7B432F7E4C96Q34959355-65A5DAE1-A80F-43A4-B29D-BFA7F5048617
P2860
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@en
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@nl
type
label
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@en
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@nl
prefLabel
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@en
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@nl
P2860
P1433
P1476
Advances in clinical and molec ...... ciated tremor/ataxia syndrome.
@en
P2093
Paul Hagerman
Randi Hagerman
P2860
P304
P356
10.1016/S1474-4422(13)70125-X
P577
2013-08-01T00:00:00Z