scholarly article | Q13442814 |
P50 | author | Ann Reynolds | Q58144186 |
P2093 | author name string | L 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 | |||
P2860 | cites work | Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond | Q48942951 |
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 carriers | Q50279671 | ||
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 atrophy | Q50279964 | ||
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-inactivation | Q50282509 | ||
The fragile X premutation presenting as postprandial hypotension | Q50282561 | ||
A neuropsychological investigation of male premutation carriers of fragile X syndrome | Q50282888 | ||
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 consistency | Q57422462 | ||
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome | Q61925541 | ||
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study | Q73351650 | ||
Tests of stepping as indicators of mobility, balance, and fall risk in balance-impaired older adults | Q80226422 | ||
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation | Q24533431 | ||
The Measurement of Observer Agreement for Categorical Data | Q26778373 | ||
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population | Q28241139 | ||
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates | Q33905067 | ||
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 syndrome | Q43073775 | ||
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome | Q43626884 | ||
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 premutation | Q46224818 | ||
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 study | Q46923729 | ||
Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome | Q48288503 | ||
Progression of tremor and ataxia in male carriers of the FMR1 premutation | Q48354732 | ||
P433 | issue | 16 Pt 2 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 1397-1402 | |
P577 | publication date | 2007-12-05 | |
P1433 | published in | Neurology | Q1161692 |
P1476 | title | FMR1 CGG repeat length predicts motor dysfunction in premutation carriers | |
P478 | volume | 70 |
Q64865906 | Q64865906 |
Q35559347 | A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation |
Q40715457 | A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population |
Q37460812 | A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings |
Q37415441 | A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis |
Q48621332 | ACMG 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 |
Q35047721 | Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation |
Q37580522 | Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome |
Q52661580 | Age-related functional brain changes in FMR1 premutation carriers. |
Q34000722 | Associated features in females with an FMR1 premutation |
Q88028146 | Association between macroorchidism and intelligence in FMR1 premutation carriers |
Q42068973 | CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome |
Q37021134 | CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. |
Q35809701 | Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts |
Q47999570 | Carriage 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. |
Q36483349 | Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10. |
Q50245493 | Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). |
Q92152292 | Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale |
Q91648121 | Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome |
Q91835435 | Complexity based measures of postural stability provide novel evidence of functional decline in fragile X premutation carriers |
Q34983498 | Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome |
Q37394408 | Developmental profiles of infants with an FMR1 premutation |
Q61806814 | Early Identification of Fragile X Syndrome through Expanded Newborn Screening |
Q37223278 | Ectopic expression of CGG containing mRNA is neurotoxic in mammals |
Q34077088 | Emerging topics in FXTAS. |
Q33649463 | Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome |
Q34231104 | Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. |
Q37601806 | FMR1 gray-zone alleles: association with Parkinson's disease in women? |
Q37216636 | FMR1: a gene with three faces |
Q39933003 | Family Communication and Cascade Testing for Fragile X Syndrome |
Q38851924 | Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice |
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Q33477846 | Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment |
Q38896237 | Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders |
Q34329664 | Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment |
Q56971626 | Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom |
Q50244394 | Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome |
Q35125117 | Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome |
Q55007011 | Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome. |
Q36006297 | High rates of parkinsonism in adults with autism |
Q55665860 | Immune mediated disorders in women with a fragile X expansion and FXTAS. |
Q37564195 | Impaired activity-dependent neural circuit assembly and refinement in autism spectrum disorder genetic models |
Q46708960 | Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers. |
Q40080863 | Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families |
Q92203559 | Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation |
Q55516344 | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
Q28077980 | Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders |
Q37455479 | Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome |
Q35037764 | Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome |
Q36882908 | Neurological and endocrine phenotypes of fragile X carrier women |
Q37154956 | New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS) |
Q34359862 | New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. |
Q35537475 | Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women |
Q89695595 | Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS) |
Q40512900 | Parkinsonism and cognitive decline in a fragile X mosaic male |
Q37199782 | Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease |
Q33604446 | Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited |
Q48324319 | Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males. |
Q34399389 | Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. |
Q30454136 | Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome |
Q38847227 | Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation |
Q33846889 | Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. |
Q26992035 | RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome |
Q37399680 | RNA-mediated pathogenesis in fragile X-associated disorders |
Q33775794 | 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 |
Q36474429 | Regulatory RNAs in brain function and disorders |
Q48433730 | Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice |
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Q40117267 | Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients |
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Q37803583 | The behavioral phenotype of FMR1 mutations |
Q34055459 | The cognitive neuropsychological phenotype of carriers of the FMR1 premutation. |
Q30249226 | The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology |
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Q46017473 | Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. |
Q53799975 | Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length. |
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