Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Prevalence estimates for fragile X syndrome vary considerably. This systematic review and
meta‐analysis was conducted to provide an accurate prevalence estimate for this disorder …

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative
disease characterized by eosinophilic intranuclear inclusions in the nervous system and …

Fragile X-associated tremor ataxia syndrome (FXTAS) results from a CGG repeat expansion
in the 5′ UTR of FMR1. This repeat is thought to elicit toxicity as RNA, yet disease brains …

Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

Fragile X syndrome (FXS) is caused by the full mutation (> 200 CGG repeats) in the Fragile
X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual …

Principles and Practice of Movement Disorders provides the complete, expert guidance you
need to diagnose and manage these challenging conditions. Drs. Stanley Fahn, Joseph …

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-
deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with …

Human diseases are caused by alleles that encompass the full range of variant types, from
single-nucleotide changes to copy-number variants, and these variations span a broad …