The FRAXopathies: Definition, overview, and update

Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Maureen A. Leehey   JOURNAL OF INVESTIGATIVE MEDICINE

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

(2016) Randi Hagerman   Clinical Interventions in Aging

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

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

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

Advances in understanding the molecular basis of FXTAS

(2010) D. Garcia-Arocena et al.   HUMAN MOLECULAR GENETICS

Aripiprazole in autism spectrum disorders and fragile X syndrome

(2010) Craig A. Erickson et al.   Neurotherapeutics

Potential therapeutic interventions for fragile X syndrome

(2010) Josien Levenga et al.   TRENDS IN MOLECULAR MEDICINE

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome

(2009) Anja Naumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

(2009) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Review of Fragile X Premutation Disorders

(2009) James A. Bourgeois et al.   JOURNAL OF CLINICAL PSYCHIATRY

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

Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

(2009) Isabel Fernandez-Carvajal et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation

(2009) Elisabetta Tabolacci et al.   Pharmacogenetics and Genomics

Metabotropic Glutamate Receptor-Mediated Long-Term Depression: Molecular Mechanisms

(2009) C. M. Gladding et al.   PHARMACOLOGICAL REVIEWS

Generation and Characterization of Fmr1 Knockout Zebrafish

(2009) Marjo J. den Broeder et al.   PLoS One

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 double-blind, parallel, multicenter comparison ofL-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

(2008) M. Giulia Torrioli 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

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

Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers

(2008) Jessica Ezzell Hunter et al.   BEHAVIOR GENETICS

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

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

(2008) Elisabetta Tabolacci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study

(2008) J. Rohr et al.   HUMAN REPRODUCTION

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

Mechanistic relationships between Drosophila fragile X mental retardation protein and metabotropic glutamate receptor A signaling

(2008) Luyuan Pan et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila

(2008) Shuang Chang et al.   Nature Chemical Biology

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

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY