Intranuclear inclusions in a fragile X mosaic male

Fragile X Syndrome

(2012) Yingratana McLennan et al.   CURRENT GENOMICS

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

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

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

(2011) Michael R. Hunsaker et al.   ACTA NEUROPATHOLOGICA

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

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

Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome

(2011) Claudia M Greco et al.   Molecular Autism

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Parkinsonism and cognitive decline in a fragile X mosaic male

(2010) Deborah Hall et al.   MOVEMENT DISORDERS

Examination of FMR1 transcript and protein levels among 74 premutation carriers

(2009) Emmanuel Peprah et al.   JOURNAL OF HUMAN GENETICS

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS