Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Brain : a journal of neurology

• Publication date

  2002-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/BRAIN/AWF184PMID 12135967
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A Rapid, Quantitative Immunofunctional Assay for Measuring Human Leptin

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• Real-Time Quantitative PCR

  2002influential reference
• Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

  2002influential reference
• Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

  2001cited by this paper
• Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration.

  2001cited by this paper
• Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

  2001cited by this paper
• Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

  2001cited by this paper
• The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders.

  2001cited by this paper
• Neuronal intranuclear hyaline inclusion disease with polyglutamine-immunoreactive inclusions

  2000cited by this paper
• Pathological and neuropathological findings in two males with fragile-X syndrome.

  2000cited by this paper
• Clinical involvement and protein expression in individuals with the FMR1 premutation.

  2000influential reference
• Pathology of CAG repeat diseases

  2000cited by this paper
• Transcription of the FMR1 gene in individuals with fragile X syndrome.

  2000influential reference
• Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

  2000influential reference
• Cell death in polyglutamine diseases

  2000cited by this paper
• Dendritic spine structural anomalies in fragile-X mental retardation syndrome.

  2000cited by this paper
• Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

  1999cited by this paper
• FMRP expression as a potential prognostic indicator in fragile X syndrome.

  1999cited by this paper
• Reply to Altschuler

  1999cited by this paper
• Postmortem examination of two fragile X brothers with an FMR1 full mutation.

  1999cited by this paper
• Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

  1998cited by this paper
• Phenotypic involvement in females with the FMR1 gene mutation.

  1998influential reference
• Ubiquitin, cellular inclusions and their role in neurodegeneration.

  1998cited by this paper
• Neuronal intranuclear inclusion disease: neuropathologic study of a case.

  1998influential reference
• Decreased cerebellar posterior vermis size in fragile X syndrome

  1998cited by this paper
• Transmission of the FRAXA haplotype from three nonpenetrant brothers to their affected grandsons: an update with AGG interspersion analysis.

  1998cited by this paper
• Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

  1998cited by this paper
• Executive function and motor skill learning.

  1997cited by this paper
• Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

  1997cited by this paper
• Eosinophilic intranuclear inclusions in the hippocampal pyramidal neurons of a patient with amyotrophic lateral sclerosis

  1997cited by this paper
• Huntington's Disease and Dentatorubral‐Pallidoluysian Atrophy: Proteins, Pathogenesis and Pathology

  1997cited by this paper
• The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features

  1997cited by this paper
• Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain

  1997cited by this paper
• Learning-disabled males with a fragile X CGG expansion in the upper premutation size range.

  1996influential reference
• Real time quantitative PCR.

  1996cited by this paper
• Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization.

  1995cited by this paper
• Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

  1995cited by this paper
• Rapid antibody test for fragile X syndrome.

  1995cited by this paper
• Neurodevelopmental effects of the FMR-1 full mutation in humans

  1995cited by this paper
• Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism.

  1995cited by this paper
• Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

  1994cited by this paper
• Neuroanatomy of fragile X syndrome

  1994cited by this paper
• Transmitting males and carrier females in fragile X--revisited.

  1994influential reference
• Behavioral and psychiatric disorders in adult male carriers of fragile X.

  1994cited by this paper
• Prediction of mental status in carriers of the fragile X mutation using CGG repeat length.

  1994influential reference
• Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

  1993cited by this paper
• The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

  1993cited by this paper
• Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons.

  1992cited by this paper
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

  1991cited by this paper
• Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

  1991cited by this paper
• Absence of expression of the FMR-1 gene in fragile X syndrome.

  1991cited by this paper
• Neuroanatomy of fragile X syndrome: The posterior fossa

  1991cited by this paper
• Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

  1991cited by this paper
• Fragile X genotype characterized by an unstable region of DNA

  1991cited by this paper
• Neuroanatomy in fragile X females: the posterior fossa.

  1991cited by this paper
• Analysis of neocortex in three males with the fragile X syndrome.

  1991cited by this paper
• Adult fragile X syndrome

  1985cited by this paper
• Ultrastructural Pathology of the Cell and Matrix

  1982cited by this paper
• The morphology of Marinesco bodies (paranucleolar corpuscles) in the melanin-pigmented nuclei of the brain-stem

  1963cited by this paper

• Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice

  2025cites this paper
• IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats

  2025cites this paper
• Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.

  2025cites this paper
• Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

  2025cites this paper
• Cerebellar and Brainstem White Matter Geometric Alterations in Multiple System Atrophy: A DFA‐Based Biomarker for Disease Staging

  2025cites this paper
• Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology

  2025cites this paper
• Heat-shock chaperone HSPB1 mitigates poly-glycine-induced neurodegeneration via restoration of autophagic flux

  2025cites this paper
• Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier

  2024cites this paper
• The Role of NRF2 in Trinucleotide Repeat Expansion Disorders

  2024cites this paper
• Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X‐Associated Disorders

  2024cites this paper
• Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases

  2024cites this paper
• Role of Fragile X Messenger Ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective.

  2024influential citation
• Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective.

  2024cites this paper
• Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X‐associated tremor/ataxia syndrome

  2024cites this paper
• Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions

  2024cites this paper
• FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome system

  2023cites this paper
• Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS

  2023cites this paper
• Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

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• A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome

  2023cites this paper
• A postmortem MRI study of cerebrovascular disease and iron content at end-stage of fragile X-associated tremor/ataxia syndrome

  2023cites this paper
• Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research

  2023cites this paper
• Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

  2023cites this paper
• Sensorimotor and inhibitory control in aging FMR1 premutation carriers

  2023cites this paper
• Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome

  2022cites this paper
• Clinical and mechanism advances of neuronal intranuclear inclusion disease

  2022cites this paper
• 341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model

  2022influential citation
• CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins

  2022cites this paper
• Les myopathies oculo-pharyngo-distales : des nouvelles maladies à expansions de répétitions CGG

  2022cites this paper
• Partners in crime: Proteins implicated in RNA repeat expansion diseases

  2022cites this paper
• Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes

  2022cites this paper
• Cognitive Dysfunction in Repeat Expansion Diseases: A Review

  2022cites this paper
• Tremors

  2022cites this paper
• Neurogenetic disorders across the lifespan: from aberrant development to degeneration

  2022cites this paper
• Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation

  2021cites this paper
• Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.

  2021cites this paper
• Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS

  2021cites this paper
• Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways

  2021cites this paper
• Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.

  2021cites this paper
• Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation

  2021cites this paper
• Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome

  2021cites this paper
• Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

  2021cites this paper
• SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity

  2021cites this paper
• Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

  2021cites this paper
• New Advances and Treatments

  2021cites this paper
• (Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders

  2021cites this paper
• RNA-Mediated Metabolic Defects in Microsatellite Expansion Diseases

  2021cites this paper
• Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement

  2021cites this paper
• Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

  2021cites this paper
• Recent research in fragile X-associated tremor/ataxia syndrome.

  2021cites this paper
• CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome

  2021cites this paper
• Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

  2021cites this paper
• Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.

  2021cites this paper
• Cerebral Microbleeds in Fragile X–Associated Tremor/Ataxia Syndrome

  2021cites this paper
• Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

  2021cites this paper
• Fragile X Syndrome

  2021cites this paper
• Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome.

  2021cites this paper
• In vivo CGG repeat RNA binding protein capture identifies RAN translation modifiers and suppressors of repeat toxicity

  2021cites this paper
• Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways

  2020cites this paper
• Neuropathology of a case of fragile X‐associated tremor ataxia syndrome without tremor

  2020cites this paper
• Near-cognate initiation generates FMRpolyG from CGG repeats in Fragile X associated Tremor Ataxia Syndrome

  2020cites this paper
• Drosophila Glia: Models for Human Neurodevelopmental and Neurodegenerative Disorders

  2020cites this paper
• The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?

  2020cites this paper
• Women with Fragile X–associated Tremor/Ataxia Syndrome

  2020cites this paper
• The roles of hnRNP A2/B1 in RNA biology and disease

  2020cites this paper
• In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome

  2020cites this paper
• Fragile X syndrome and associated disorders: Clinical aspects and pathology.

  2020cites this paper
• A native function for RAN translation and CGG repeats in regulating Fragile X protein synthesis

  2020cites this paper
• Recent progress in neuronal intranuclear inclusion disease: a review of the literature

  2020cites this paper
• Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

  2020cites this paper
• Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries

  2020cites this paper
• Fragile X Premutation rCGG Repeats Impairs Synaptic Growth and Synaptic Transmission at Drosophila larval Neuromuscular Junction

  2020cites this paper
• Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

  2020cites this paper
• Fragile X clinical features and neurobiology

  2020cites this paper
• Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

  2020cites this paper
• Repeat-associated non-AUG (RAN) translation: insights from pathology

  2019influential citation
• The FMRpolyGlycine Protein Mediates Aggregate Formation and Toxicity Independent of the CGG mRNA Hairpin in a Cellular Model for FXTAS

  2019influential citation
• Cerebellar syndrome and cognitive dysfunction with characteristic MRI findings in fragile X-associated tremor ataxia syndrome: A Case Report

  2019cites this paper
• Understanding the Pathogenicity of Noncoding RNA Expansion-Associated Neurodegenerative Disorders

  2019cites this paper
• Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

  2019cites this paper
• Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome

  2019cites this paper
• [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

  2019cites this paper
• Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

  2019cites this paper
• The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).

  2019cites this paper
• Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.

  2019cites this paper
• Epigenetic dysregulation in the fragile X-related disorders

  2019cites this paper
• Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

  2019cites this paper
• Fragile X‐associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations

  2019cites this paper
• Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome

  2019cites this paper
• Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome

  2019cites this paper
• Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

  2018cites this paper
• Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome

  2018cites this paper
• Microglial cell activation and senescence are characteristic of the pathology FXTAS

  2018cites this paper
• Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?

  2018cites this paper
• Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.

  2018cites this paper
• FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

  2018cites this paper
• Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy

  2018cites this paper
• Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats

  2018cites this paper
• Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism

  2018cites this paper
• Pur α and Hsp70 as Protective Agents Against RNA-mediated Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome

  2018cites this paper
• β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies

  2018cites this paper