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- Glial dysregulation in human brain in Fragile X-related disorders
- Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
- ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
- MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases
- Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
- FXTAS: New insights and the need for revised diagnostic criteria
- Motor and mental dysfunction in mother-daughter transmitted FXTAS
- Molecular Pathogenesis of Fragile X-Associated Tremor/Ataxia Syndrome
- Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Phenotype, Diagnosis, and Treatment
- Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation
- Invited Article: An MRI-based approach to the diagnosis of white matter disorders
- Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation
- Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery
- FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
- Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
- Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
- Size bias of fragile X premutation alleles in late-onset movement disorders
- The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter
- Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
- FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
- Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome