Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society
Background Consensus criteria for classifying tremor disorders were published by the
International Parkinson and Movement Disorder Society in 1998. Subsequent advances with …
International Parkinson and Movement Disorder Society in 1998. Subsequent advances with …
Multiple-system atrophy
A Fanciulli, GK Wenning - New England Journal of Medicine, 2015 - Mass Medical Soc
Multiple-system atrophy is a neurodegenerative disease characterized by progressive
autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …
autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …
Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management
RJ Hagerman, P Hagerman - Nature Reviews Neurology, 2016 - nature.com
Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …
[HTML][HTML] Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
R Hagerman, P Hagerman - The Lancet Neurology, 2013 - thelancet.com
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
[HTML][HTML] Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …
The expanding universe of disorders of the basal ganglia
The basal ganglia were originally thought to be associated purely with motor control.
However, dysfunction and pathology of different regions and circuits are now known to give …
However, dysfunction and pathology of different regions and circuits are now known to give …
Fragile X spectrum disorders
R Lozano, CA Rosero, RJ Hagerman - Intractable & rare diseases …, 2014 - jstage.jst.go.jp
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental
retardation 1 protein (FMRP), is located at Xp27. 3. The normal allele of the FMR1 gene …
retardation 1 protein (FMRP), is located at Xp27. 3. The normal allele of the FMR1 gene …
[HTML][HTML] Fragile X-associated tremor/ataxia syndrome (FXTAS): pathophysiology and clinical implications
AM Cabal-Herrera, N Tassanakijpanich… - International journal of …, 2020 - mdpi.com
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
P Hagerman - Acta neuropathologica, 2013 - Springer
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …
Fragile X–associated tremor/ataxia syndrome
PJ Hagerman, RJ Hagerman - … of the New York Academy of …, 2015 - Wiley Online Library
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative
disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions …
disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions …