[HTML][HTML] Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

F Tassone, D Protic, EG Allen, AD Archibald, A Baud… - Cells, 2023 - mdpi.com
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 …

Clinical approach to Parkinson's disease: features, diagnosis, and principles of management

J Massano, KP Bhatia - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The
condition causes a heavy burden both on those affected, as well as their families. Accurate …

Second consensus statement on the diagnosis of multiple system atrophy

S Gilman, GK Wenning, PA Low, DJ Brooks… - Neurology, 2008 - neurology.org
Background: A consensus conference on multiple system atrophy (MSA) in 1998
established criteria for diagnosis that have been accepted widely. Since then, clinical …

RNA-binding proteins in human genetic disease

KE Lukong, K Chang, EW Khandjian, S Richard - Trends in Genetics, 2008 - cell.com
RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the
temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has …

Advances in the treatment of fragile X syndrome

RJ Hagerman, E Berry-Kravis, WE Kaufmann… - …, 2009 - publications.aap.org
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-
deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with …

[HTML][HTML] Hereditary ataxias: overview

S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

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) …

An updated review of Parkinson's disease genetics and clinicopathological correlations

M Ferreira, J Massano - Acta Neurologica Scandinavica, 2017 - Wiley Online Library
Abstract Knowledge regarding the pathophysiological basis of Parkinson's disease (PD) has
been greatly expanded over the past two decades, with extraordinary contributions from the …

[HTML][HTML] Fragile X syndrome and associated disorders: Clinical aspects and pathology

MJ Salcedo-Arellano, B Dufour, Y McLennan… - Neurobiology of …, 2020 - Elsevier
This review aims to assemble many years of research and clinical experience in the fields of
neurodevelopment and neuroscience to present an up-to-date understanding of the clinical …

[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 …