Fragile X-associated tremor/ataxia syndrome

Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Maureen A. Leehey   JOURNAL OF INVESTIGATIVE MEDICINE

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

(2014) John Douglas Cleary et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1

(2014) Fang He et al.   HUMAN MOLECULAR GENETICS

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

(2014) A. L. Ludwig et al.   HUMAN MOLECULAR GENETICS

Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans

(2014) Bi-Tzen Juang et al.   HUMAN MOLECULAR GENETICS

Translating Molecular Advances in Fragile X Syndrome Into Therapy

(2014) Randi J. Hagerman et al.   JOURNAL OF CLINICAL PSYCHIATRY

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

Associated features in females with an FMR1 premutation

(2014) Anne C Wheeler et al.   Journal of Neurodevelopmental Disorders

Emerging topics in FXTAS

(2014) Deborah A Hall et al.   Journal of Neurodevelopmental Disorders

Visual motion processing deficits in infants with the fragile X premutation

(2014) Pamela K Gallego et al.   Journal of Neurodevelopmental Disorders

Fragile X gene expansions are not associated with dementia

(2014) Deborah A. Hall et al.   NEUROBIOLOGY OF AGING

Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study

(2014) Jin-Chen Yang et al.   NEUROPSYCHOPHARMACOLOGY

Identification of FXTAS presenting with SCA 12 like phenotype in India

(2014) Mohammed Faruq et al.   PARKINSONISM & RELATED DISORDERS

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

(2014) Avram Fraint et al.   Frontiers in Genetics

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

(2013) L. Santa María et al.   CLINICAL GENETICS

Prevalence and risk of migraine headaches in adult fragile X premutation carriers

(2013) J Au et al.   CLINICAL GENETICS

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1

(2013) P. K. Todd et al.   Disease Models & Mechanisms

High apolipoprotein E4 allele frequency in FXTAS patients

(2013) Francisca Silva et al.   GENETICS IN MEDICINE

GC skew at the 5' and 3' ends of human genes links R-loop formation to epigenetic regulation and transcription termination

(2013) P. A. Ginno et al.   GENOME RESEARCH

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

(2013) Chiara Pastori et al.   HUMAN GENETICS

Molecular mechanisms of muscle atrophy in myotonic dystrophies

(2013) Lubov Timchenko   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Hyper-reactivity in fragile X syndrome females: Generalised or specific to socially-salient stimuli? A skin conductance study

(2013) Tracey A. Williams et al.   INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY

Enhanced Asynchronous Ca2+Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes ExpressingFmr1Gene Premutation Expansion

(2013) Zhengyu Cao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Memantine for Fragile X–Associated Tremor/Ataxia Syndrome

(2013) Andreea L. Seritan et al.   JOURNAL OF CLINICAL PSYCHIATRY

A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

(2013) Mary Jacena S. Leigh et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions

(2013) Carolyn M Yrigollen et al.   JOURNAL OF HUMAN GENETICS

Electrocortical changes associated with minocycline treatment in fragile X syndrome

(2013) Andrea Schneider et al.   JOURNAL OF PSYCHOPHARMACOLOGY

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers

(2013) Jun Yi Wang et al.   MOVEMENT DISORDERS

Neurosteroids as regenerative agents in the brain: therapeutic implications

(2013) Roberta D. Brinton   Nature Reviews Endocrinology

Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome

(2013) Giovanni Battistella et al.   NEUROBIOLOGY OF AGING

Phosphorylation of FMRP and alterations of FMRP complex underlie enhanced mLTD in adult rats triggered by early life seizures

(2013) Paul B. Bernard et al.   NEUROBIOLOGY OF DISEASE

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Fragile X–Associated Tremor/Ataxia Syndrome

(2013) Jun Yi Wang et al.   JAMA Neurology

Intranuclear inclusions in a fragile X mosaic male

(2013) Dalyir I Pretto et al.   Translational Neurodegeneration

A Small Molecule That Targets r(CGG)exp and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome

(2012) Matthew D. Disney et al.   ACS Chemical Biology

Newborn screening and cascade testing forFMR1mutations

(2012) Page L. Sorensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypertension inFMR1premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS)

(2012) Alyssa A. Hamlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Immune-mediated disorders among women carriers of fragile X premutation alleles

(2012) Tri Indah Winarni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample

(2012) Marsha Mailick Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Age-Dependent Structural Connectivity Effects in Fragile X Premutation

(2012) Jun Yi Wang et al.   ARCHIVES OF NEUROLOGY

RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome

(2012) Yujing Li et al.   BRAIN RESEARCH

RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity

(2012) Gloria V. Echeverria et al.   BRAIN RESEARCH

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

(2012) Y Liu et al.   CLINICAL GENETICS

Myotonic dystrophy

(2012) Mani S. Mahadevan   CURRENT OPINION IN NEUROLOGY

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS

(2012) F. Tassone et al.   GENES BRAIN AND BEHAVIOR

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice

(2012) A. J. Iliff et al.   HUMAN MOLECULAR GENETICS

Neurodevelopmental Disabilities in Children With Intermediate and Premutation Range Fragile X Cytosine-Guanine-Guanine Expansions

(2012) Meredith M. Renda et al.   JOURNAL OF CHILD NEUROLOGY

Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model

(2012) Eitan S. Kaplan et al.   JOURNAL OF NEUROCHEMISTRY

Olfactory dysfunction in fragile X tremor ataxia syndrome

(2012) Jorge L. Juncos et al.   MOVEMENT DISORDERS

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis

(2012) Ewout J.N. Groen et al.   NEUROBIOLOGY OF AGING

Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles

(2012) Jun Yi Wang et al.   NEUROIMAGE

FXTAS: New insights and the need for revised diagnostic criteria

(2012) E. Apartis et al.   NEUROLOGY

Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte

(2012) Verena Aumiller et al.   RNA Biology

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

(2012) Flora Tassone et al.   Genome Medicine

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

(2011) D.Z. Loesch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Sleep apnea in fragile X premutation carriers with and without FXTAS

(2011) Alyssa Hamlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Decreased Fragile X Mental Retardation Protein Expression Underlies Amygdala Dysfunction in Carriers of the Fragile X Premutation

(2011) David Hessl et al.   BIOLOGICAL PSYCHIATRY

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome

(2011) R.-i. Hashimoto et al.   BRAIN

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

(2011) D Z Loesch et al.   CLINICAL GENETICS

The RNA-binding protein Sam68 is a multifunctional player in human cancer

(2011) P. Bielli et al.   ENDOCRINE-RELATED CANCER

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

(2011) Danuta Z Loesch et al.   GENETICS IN MEDICINE

Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with Fragile X Syndrome.

(2011) Marsha Mailick Seltzer et al.   HEALTH PSYCHOLOGY

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS

(2011) G. Hoem et al.   HUMAN MOLECULAR GENETICS

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males With Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders

(2011) Michael R. Hunsaker et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers

(2011) Deborah Hall et al.   MOVEMENT DISORDERS

Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex

(2011) Claude M Schofield et al.   Neural Development

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

New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)

(2011) Jorge L. Juncos et al.   NEUROGENETICS

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers

(2011) M. A. Leehey et al.   RHEUMATOLOGY

Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats

(2011) Abrar Qurashi et al.   PLoS Genetics

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome

(2010) Catherine Ross-Inta et al.   BIOCHEMICAL JOURNAL

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Lifetime Prevalence of Mood and Anxiety Disorders in Fragile X Premutation Carriers

(2010) James A. Bourgeois et al.   JOURNAL OF CLINICAL PSYCHIATRY

Improving Fragile X-Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine

(2010) Melina C. Ortigas et al.   JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY

Aging in fragile X syndrome

(2010) Agustini Utari et al.   Journal of Neurodevelopmental Disorders

Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome

(2010) Andrea Schneider et al.   NEUROBIOLOGY OF AGING

Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins

(2010) Ripon Paul et al.   NEUROTOXICOLOGY

Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

(2010) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Nuclear entry of a cGMP-dependent kinase converts transient into long-lasting olfactory adaptation

(2010) J. I. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DGCR8 recognizes primary transcripts of microRNAs through highly cooperative binding and formation of higher-order structures

(2010) M. Faller et al.   RNA

Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism

(2009) Roberto Cilia et al.   ARCHIVES OF NEUROLOGY

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

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

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

(2009) Y. Chen et al.   HUMAN MOLECULAR GENETICS

A Review of Fragile X Premutation Disorders

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

A 3′UTR Pumilio-Binding Element Directs Translational Activation in Olfactory Sensory Neurons

(2009) Julia A. Kaye et al.   NEURON

Regulators of AWC-Mediated Olfactory Plasticity in Caenorhabditis elegans

(2009) Damien M. O'Halloran et al.   PLoS Genetics

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

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

Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis

(2008) Claudia M. Greco et al.   ARCHIVES OF NEUROLOGY

Abnormal Nerve Conduction Features in Fragile X Premutation Carriers

(2008) Kultida Soontarapornchai et al.   ARCHIVES OF NEUROLOGY

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease

(2008) Deborah A. Hall et al.   PARKINSONISM & RELATED DISORDERS