Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

(2016) Molly Foote et al.   CEREBELLUM

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

(2015) Renate K. Hukema et al.   HUMAN MOLECULAR GENETICS

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome

(2015) Seok Yoon Oh et al.   HUMAN MOLECULAR GENETICS

Induced expression of expanded CGG RNA causes mitochondrial dysfunctionin vivo

(2014) Renate K Hukema et al.   CELL CYCLE

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

(2014) Robert F Berman et al.   Journal of Neurodevelopmental Disorders

Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease

(2014) Anabela Silva-Fernandes et al.   Neurotherapeutics

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

(2014) Ronald AM Buijsen et al.   Acta Neuropathologica Communications

Consensus Paper: The Cerebellum's Role in Movement and Cognition

(2013) Leonard F. Koziol et al.   CEREBELLUM

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

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

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

(2013) Peter K. Todd et al.   NEURON

Activation of mTOR Ameliorates Fragile X Premutation rCGG Repeat-Mediated Neurodegeneration

(2013) Yunting Lin et al.   PLoS One

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

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

(2011) Marsha Mailick Seltzer et al.   HEALTH PSYCHOLOGY

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome

(2010) M. Santos et al.   NEUROSCIENCE

FMR1: A gene with three faces

(2009) Ben A Oostra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

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