FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

scientific article

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/01.WNL.0000281692.98200.F5
P932PMC publication ID2685188
P698PubMed publication ID18057320
P5875ResearchGate publication ID5791524

P50authorAnn ReynoldsQ58144186
P2093author name stringL Li
L Zhang
E Berry-Kravis
F Tassone
J Grigsby
L Gane
P J Hagerman
R J Hagerman
S Jacquemont
C G Goetz
D A Hall
C D Rice
R Lara
J Cogswell
M A Leehey
P2860cites workEvidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyondQ48942951
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.Q50277634
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).Q50278350
Magnetic resonance imaging study in older fragile X premutation male carriersQ50279671
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).Q50279685
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophyQ50279964
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.Q50282467
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivationQ50282509
The fragile X premutation presenting as postprandial hypotensionQ50282561
A neuropsychological investigation of male premutation carriers of fragile X syndromeQ50282888
Neuropathic features in fragile X premutation carriers.Q51909237
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.Q51934788
Unified Huntington's disease rating scale: Reliability and consistencyQ57422462
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndromeQ61925541
Tremor and ataxia in fragile X premutation carriers: Blinded videotape studyQ73351650
Tests of stepping as indicators of mobility, balance, and fall risk in balance-impaired older adultsQ80226422
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutationQ24533431
The Measurement of Observer Agreement for Categorical DataQ26778373
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier populationQ28241139
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeQ28273791
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlatesQ33905067
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Q34146206
Size bias of fragile X premutation alleles in late-onset movement disorders.Q36927093
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndromeQ43073775
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndromeQ43626884
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).Q45976696
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).Q46007399
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).Q46218699
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutationQ46224818
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.Q46601293
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.Q46666276
Obstetrical and gynecological complications in fragile X carriers: a multicenter studyQ46923729
Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndromeQ48288503
Progression of tremor and ataxia in male carriers of the FMR1 premutationQ48354732
P433issue16 Pt 2
P407language of work or nameEnglishQ1860
P304page(s)1397-1402
P577publication date2007-12-05
P1433published inNeurologyQ1161692
P1476titleFMR1 CGG repeat length predicts motor dysfunction in premutation carriers
P478volume70

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cites work (P2860)
Q64865906Q64865906
Q35559347A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation
Q40715457A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population
Q37460812A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings
Q37415441A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis
Q48621332ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
Q35047721Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation
Q37580522Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
Q52661580Age-related functional brain changes in FMR1 premutation carriers.
Q34000722Associated features in females with an FMR1 premutation
Q88028146Association between macroorchidism and intelligence in FMR1 premutation carriers
Q42068973CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
Q37021134CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.
Q35809701Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts
Q47999570Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.
Q36483349Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.
Q50245493Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Q92152292Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale
Q91648121Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome
Q91835435Complexity based measures of postural stability provide novel evidence of functional decline in fragile X premutation carriers
Q34983498Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome
Q37394408Developmental profiles of infants with an FMR1 premutation
Q61806814Early Identification of Fragile X Syndrome through Expanded Newborn Screening
Q37223278Ectopic expression of CGG containing mRNA is neurotoxic in mammals
Q34077088Emerging topics in FXTAS.
Q33649463Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome
Q34231104Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.
Q37601806FMR1 gray-zone alleles: association with Parkinson's disease in women?
Q37216636FMR1: a gene with three faces
Q39933003Family Communication and Cascade Testing for Fragile X Syndrome
Q38851924Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice
Q38880460Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene
Q33477846Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment
Q38896237Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
Q34329664Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment
Q56971626Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom
Q50244394Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome
Q35125117Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome
Q55007011Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.
Q36006297High rates of parkinsonism in adults with autism
Q55665860Immune mediated disorders in women with a fragile X expansion and FXTAS.
Q37564195Impaired activity-dependent neural circuit assembly and refinement in autism spectrum disorder genetic models
Q46708960Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Q40080863Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families
Q92203559Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation
Q55516344Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?
Q28077980Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
Q37455479Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome
Q35037764Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome
Q36882908Neurological and endocrine phenotypes of fragile X carrier women
Q37154956New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)
Q34359862New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
Q35537475Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women
Q89695595Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)
Q40512900Parkinsonism and cognitive decline in a fragile X mosaic male
Q37199782Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
Q33604446Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited
Q48324319Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.
Q34399389Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
Q30454136Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome
Q38847227Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation
Q33846889Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.
Q26992035RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome
Q37399680RNA-mediated pathogenesis in fragile X-associated disorders
Q33775794Reduced 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
Q36474429Regulatory RNAs in brain function and disorders
Q48433730Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice
Q27011565Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
Q40117267Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
Q61446016Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers
Q35053183Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls
Q92582662The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome
Q59329392The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers
Q37803583The behavioral phenotype of FMR1 mutations
Q34055459The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.
Q30249226The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology
Q37806971The fragile x-associated tremor and ataxia syndrome (FXTAS)
Q26852891The multiple molecular facets of fragile X-associated tremor/ataxia syndrome
Q26996649Unstable mutations in the FMR1 gene and the phenotypes
Q46017473Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Q53799975Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Q36757091X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
Q34630352Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments
Q91918711[Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment]
Q57174443splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Q52374187β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.

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