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

Molecular Pathogenesis of Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Christopher Raske et al.   JOURNAL OF INVESTIGATIVE MEDICINE

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

Neurodegeneration as a consequence of failed mitochondrial maintenance

(2011) Mariusz Karbowski et al.   ACTA NEUROPATHOLOGICA

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

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

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

(2011) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

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

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers

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

Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology

(2010) Louise W. Gane et al.   AGING & MENTAL HEALTH

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

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

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome

(2010) W Chonchaiya et al.   CLINICAL GENETICS

Fragile X Dementia Parkinsonism Syndrome (FXDPS)

(2010) Anthony T. Yachnis et al.   Cognitive and Behavioral Neurology

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome

(2010) Weerasak Chonchaiya et al.   HUMAN GENETICS

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

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

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

A Review of Fragile X Premutation Disorders

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

Examination of FMR1 transcript and protein levels among 74 premutation carriers

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

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

(2009) M Sevin et al.   JOURNAL OF MEDICAL GENETICS

FMR1 premutation in females diagnosed with multiple sclerosis

(2009) L Zhang et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

(2008) Angela G. Brega et al.   JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY

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

(2008) Murat Gokden et al.   NEUROPATHOLOGY

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

(2008) Jim Grigsby et al.   NEUROPSYCHOLOGY

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