标题
FMR1 premutation and full mutation molecular mechanisms related to autism
作者
关键词
-
出版物
Journal of Neurodevelopmental Disorders
Volume 3, Issue 3, Pages 211-224
出版商
Springer Nature
发表日期
2011-05-26
DOI
10.1007/s11689-011-9084-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
- (2016) Randi Hagerman Clinical Interventions in Aging
- A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
- (2011) R.-i. Hashimoto et al. BRAIN
- Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene
- (2011) Ryu-ichiro Hashimoto et al. MOVEMENT DISORDERS
- A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis
- (2011) Mei Qin et al. NEUROBIOLOGY OF DISEASE
- Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
- (2011) S. Jacquemont et al. Science Translational Medicine
- The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes
- (2010) Jerzy Wegiel et al. ACTA NEUROPATHOLOGICA
- Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
- (2010) Dilja D. Krueger et al. Annual Review of Medicine
- Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
- (2010) Michael R. Hunsaker et al. BEHAVIOURAL BRAIN RESEARCH
- Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome
- (2010) Catherine Ross-Inta et al. BIOCHEMICAL JOURNAL
- Open-label add-on treatment trial of minocycline in fragile X syndrome
- (2010) Carlo Paribello et al. BMC Neurology
- Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?
- (2010) Amy Brooks-Kayal BRAIN & DEVELOPMENT
- Plasma cytokine profiles in Fragile X subjects: Is there a role for cytokines in the pathogenesis?
- (2010) Paul Ashwood et al. BRAIN BEHAVIOR AND IMMUNITY
- Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
- (2010) H. Jürgen Wenzel et al. BRAIN RESEARCH
- Prader-Willi-like phenotype in fragile X syndrome
- (2010) Constance Schrander-Stumpel et al. CLINICAL GENETICS
- A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?
- (2010) J. P. Fryns et al. CLINICAL GENETICS
- Co-occurring diagnoses amongFMR1premutation allele carriers
- (2010) JE Hunter et al. CLINICAL GENETICS
- Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
- (2010) Chantal Sellier et al. EMBO JOURNAL
- Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
- (2010) Weerasak Chonchaiya et al. HUMAN GENETICS
- Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development
- (2010) Christopher L. Cunningham et al. HUMAN MOLECULAR GENETICS
- Advances in understanding the molecular basis of FXTAS
- (2010) D. Garcia-Arocena et al. HUMAN MOLECULAR GENETICS
- Mitochondrial Dysfunction in Autism
- (2010) Cecilia Giulivi et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Lifetime Prevalence of Mood and Anxiety Disorders in Fragile X Premutation Carriers
- (2010) James A. Bourgeois et al. JOURNAL OF CLINICAL PSYCHIATRY
- Clinical Report
- (2010) Lindsay Stevens et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization
- (2010) Lisa Cordeiro et al. Journal of Neurodevelopmental Disorders
- Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome
- (2010) C. Gross et al. JOURNAL OF NEUROSCIENCE
- Dysregulation of mTOR Signaling in Fragile X Syndrome
- (2010) A. Sharma et al. JOURNAL OF NEUROSCIENCE
- Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome
- (2010) J. L. Olmos-Serrano et al. JOURNAL OF NEUROSCIENCE
- An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
- (2010) Ryu-ichiro Hashimoto et al. JOURNAL OF PSYCHIATRIC RESEARCH
- Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132
- (2010) Dieter Edbauer et al. NEURON
- Fragile X: Leading the way for targeted treatments in autism
- (2010) Lulu W. Wang et al. Neurotherapeutics
- Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex
- (2010) Petrus J. Vries Neurotherapeutics
- Mechanism-based approaches to treating fragile X
- (2010) Gül Dölen et al. PHARMACOLOGY & THERAPEUTICS
- A Novel Target of Action of Minocycline in NGF-Induced Neurite Outgrowth in PC12 Cells: Translation Initiation Factor eIF4AI
- (2010) Kenji Hashimoto et al. PLoS One
- Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome
- (2010) A. Suvrathan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Translation regulation of mRNAs by the fragile X family of proteins through the microRNA pathway
- (2010) Anne Cheever et al. RNA Biology
- Potential therapeutic interventions for fragile X syndrome
- (2010) Josien Levenga et al. TRENDS IN MOLECULAR MEDICINE
- Fragile X Mental Retardation Protein Regulates Proliferation and Differentiation of Adult Neural Stem/Progenitor Cells
- (2010) Yuping Luo et al. PLoS Genetics
- Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
- (2010) Randi Hagerman et al. Molecular Autism
- Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
- (2009) Bradford Coffee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation
- (2009) R. Nick Hernandez et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome
- (2009) Regina Dahlhaus et al. BEHAVIOURAL BRAIN RESEARCH
- A boost in microRNAs shapes up the neuron
- (2009) Ravi Muddashetty et al. EMBO JOURNAL
- Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
- (2009) Laia Rodriguez-Revenga et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Fibroblast phenotype in male carriers of FMR1 premutation alleles
- (2009) Dolores Garcia-Arocena et al. HUMAN MOLECULAR GENETICS
- Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
- (2009) Y. Chen et al. HUMAN MOLECULAR GENETICS
- Examination of FMR1 transcript and protein levels among 74 premutation carriers
- (2009) Emmanuel Peprah et al. JOURNAL OF HUMAN GENETICS
- A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
- (2009) E Berry-Kravis et al. JOURNAL OF MEDICAL GENETICS
- Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population
- (2009) Isabel Fernandez-Carvajal et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Common circuit defect of excitatory-inhibitory balance in mouse models of autism
- (2009) Nadine Gogolla et al. Journal of Neurodevelopmental Disorders
- Preliminary evidence of the in vitro effects of BDE-47 on innate immune responses in children with autism spectrum disorders
- (2009) Paul Ashwood et al. JOURNAL OF NEUROIMMUNOLOGY
- FMR1 premutation in females diagnosed with multiple sclerosis
- (2009) L Zhang et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice
- (2009) J. Zhou et al. JOURNAL OF NEUROSCIENCE
- Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability
- (2009) Silvia De Rubeis et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons
- (2009) Josien Levenga et al. NEUROBIOLOGY OF DISEASE
- Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP
- (2009) Jill L Silverman et al. NEUROPSYCHOPHARMACOLOGY
- Association of Family History of Autoimmune Diseases and Autism Spectrum Disorders
- (2009) H. O. Atladottir et al. PEDIATRICS
- Phosphorylation of FMRP inhibits association with Dicer
- (2009) A. Cheever et al. RNA
- The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
- (2009) Catalina Betancur et al. TRENDS IN NEUROSCIENCES
- No Evidence for a Difference in Neuropsychological Profile among Carriers and Noncarriers of the FMR1 Premutation in Adults under the Age of 50
- (2008) Jessica Ezzell Hunter et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A quantitative assessment of tremor and ataxia inFMR1 premutation carriers using CATSYS
- (2008) Dalila Aguilar et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
- (2008) Catalina García-Nonell et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Expanded clinical phenotype of women with theFMR1 premutation
- (2008) Sarah M. Coffey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey
- (2008) Donald B. Bailey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): Comparison with Alzheimer's disease
- (2008) Andreea L. Seritan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Mood and anxiety disorders in females with the FMR1 premutation
- (2008) Jane E. Roberts et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Abnormal Nerve Conduction Features in Fragile X Premutation Carriers
- (2008) Kultida Soontarapornchai et al. ARCHIVES OF NEUROLOGY
- Stereotypies and hyperactivity in rhesus monkeys exposed to IgG from mothers of children with autism
- (2008) Loren A. Martin et al. BRAIN BEHAVIOR AND IMMUNITY
- Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
- (2008) Charlotte D'Hulst et al. BRAIN RESEARCH
- The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP
- (2008) Ilaria Napoli et al. CELL
- A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome
- (2008) Jason B. Dictenberg et al. DEVELOPMENTAL CELL
- Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome
- (2008) Elizabeth Berry-Kravis et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome
- (2008) Jay R. Gibson et al. JOURNAL OF NEUROPHYSIOLOGY
- Inhibitors of Cytochrome c Release with Therapeutic Potential for Huntington's Disease
- (2008) X. Wang et al. JOURNAL OF NEUROSCIENCE
- Advances in autism genetics: on the threshold of a new neurobiology
- (2008) Brett S. Abrahams et al. NATURE REVIEWS GENETICS
- Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
- (2008) Femke M.S. de Vrij et al. NEUROBIOLOGY OF DISEASE
- Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
- (2008) Gary J. Bassell et al. NEURON
- Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)
- (2008) Murat Gokden et al. NEUROPATHOLOGY
- Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.
- (2008) Jim Grigsby et al. NEUROPSYCHOLOGY
- α-Tocopherol Protects Against Oxidative Stress in the Fragile X Knockout Mouse: an Experimental Therapeutic Approach for the Fmr1 Deficiency
- (2008) Yolanda de Diego-Otero et al. NEUROPSYCHOPHARMACOLOGY
- Advances in the Treatment of Fragile X Syndrome
- (2008) R. J. Hagerman et al. PEDIATRICS
- Age-dependent cognitive changes in carriers of the fragile X syndrome
- (2007) Kim M. Cornish et al. CORTEX
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