Advances in understanding the molecular basis of FXTAS

Mouse Models of Fragile X-Associated Tremor Ataxia

(2016) Robert F. Berman et al.   JOURNAL OF INVESTIGATIVE MEDICINE

Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Maureen A. Leehey   JOURNAL OF INVESTIGATIVE MEDICINE

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

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

γH2AX: a sensitive molecular marker of DNA damage and repair

(2010) L-J Mah et al.   LEUKEMIA

Pathogenic mechanisms of myotonic dystrophy

(2009) Johanna E. Lee et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks

(2009) Olivier Sordet et al.   EMBO REPORTS

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

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

(2009) V. Hashem 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

A Review of Fragile X Premutation Disorders

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

Fragile X–Associated Tremor/Ataxia Syndrome

(2008) Khaled Amiri et al.   ARCHIVES OF NEUROLOGY

Abnormal Nerve Conduction Features in Fragile X Premutation Carriers

(2008) Kultida Soontarapornchai et al.   ARCHIVES OF NEUROLOGY

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

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS)

(2008) Murat Gokden et al.   NEUROPATHOLOGY

Age-dependent cognitive changes in carriers of the fragile X syndrome

(2007) Kim M. Cornish et al.   CORTEX

Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A

(2007) Shurong Huang et al.   EXPERIMENTAL CELL RESEARCH