Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology

Diverse Misfolded Conformational Strains and Cross-seeding of Misfolded Proteins Implicated in Neurodegenerative Diseases

(2019) Kwang Hun Lim   Frontiers in Molecular Neuroscience

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy

(2018) Martin Paucar et al.   Frontiers in Genetics

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

(2017) Chantal Sellier et al.   NEURON

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

Fragile X premutation carriers: A systematic review of neuroimaging findings

(2015) Stephanie S.G. Brown et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Progressive Supranuclear Palsy

(2014) Lawrence Golbe   SEMINARS IN NEUROLOGY

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

(2014) Avram Fraint et al.   Frontiers in Genetics

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

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

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

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

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

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

Neuropathological findings of PSP in the elderly without clinical PSP: Possible incidental PSP?

(2011) Virgilio Gerald H. Evidente et al.   PARKINSONISM & RELATED DISORDERS

Specificity and Regulation of Casein Kinase-Mediated Phosphorylation of ??-Synuclein

(2008) Elisa A. Waxman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY