Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. - Wikidata - awgldk - TriplyDB

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

http://www.wikidata.org/entity/Q31118037

about

How to tackle tremor - systematic review of the literature and diagnostic work-up Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics Advances in the treatment of fragile X syndrome Second consensus statement on the diagnosis of multiple system atrophy Mouse Genetic Models of Human Brain Disorders Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder Fragile X syndrome Unstable mutations in the FMR1 gene and the phenotypes Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Phenobarbital use and neurological problems in FMR1 premutation carriers Auditory processing in fragile x syndrome.Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome.Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders Fragile X: a family of disorders.A patient with tremor, part 1: making the diagnosis Fibroblast phenotype in male carriers of FMR1 premutation alleles Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.Broad clinical involvement in a family affected by the fragile X premutation.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Past, present and future therapeutics for cerebellar ataxias.Age-dependent cognitive impairment in a Drosophila fragile X model and its pharmacological rescue Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Advances in understanding the molecular basis of FXTAS Aging in fragile X syndrome.Milestones in magnetic resonance imaging and transcranial sonography of movement disorders.Sleep apnea in fragile X premutation carriers with and without FXTAS.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Emerging topics in FXTAS.Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.Fragile X mental retardation protein expression in Alzheimer's disease Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome.Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.

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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

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Movement Disorders

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Fragile X-associated tremor/at ...... etics, and testing guidelines.

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Brenda Finucane

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Claudia Greco

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Deborah A Hall

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Elizabeth Berry-Kravis

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Flora Tassone

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James A Bourgeois

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James A Brunberg

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Janet Lin

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Liane Abrams

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FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

The fragile X premutation presenting as postprandial hypotension.

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

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2018-30, quiz 2140

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10.1002/MDS.21493

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17618523

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