Results 101 to 110 of about 3,802 (188)

Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment

Tremor and Other Hyperkinetic Movements, 2012
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline.
Deborah A. Hall, Joan A. O'Keefe
doaj   +1 more source

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation [PDF]

, 2013
Mutations of the fragile X mental retardation 1 (FMR1) gene are the genetic cause of fragile X syndrome (FXS). Expanded CGG trinucleotide repeat (>200 repeats) result in transcriptional silencing of the FMR1 gene and deficiency/absence of the FMR1 ...
Kim, So-Yeon, Simon, Tony J, Hashimoto, Ryu-ichiro, Tassone, Flora, Rivera, Susan M   +4 more
core   +1 more source

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

Molecular Therapy: Nucleic Acids, 2019
Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55–200 CGG repeat expansion in the 5′ UTR of the FMR1 gene. Two main neurological phenotypes have been described in carriers
Malgorzata Drozd, Sébastien Delhaye, Thomas Maurin, Sara Castagnola, Mauro Grossi, Frédéric Brau, Marielle Jarjat, Rob Willemsen, Maria Capovilla, Renate K. Hukema, Enzo Lalli, Barbara Bardoni   +11 more
doaj   +1 more source

Knowledge and perceptions about Fragile X syndrome and Fragile X premutation-associated conditions among doctors in Nigeria

This is the dataset for research on the Knowledge and perceptions about Fragile X syndrome and Fragile X premutation-associated conditions among doctors in Nigeria.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
mbachu, C (via Mendeley Data)
core   +2 more sources

Abnormal neural sensitivity to rewards as a candidate process of high depression risk in the FMR1 premutation: A pilot study

Journal of Mood and Anxiety Disorders
The etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor.
Roslyn Harold, Bridgette Kelleher, Keisha Novak, Wei Siong Neo, Teagan Stump, Taylor Lee, Tessa Garwood, Elizabeth Berry-Kravis, Dan Foti   +8 more
doaj   +1 more source

Diagnostic value of molecular approach in screening for fragile X premutation cases. [PDF]

Ir J Med Sci, 2023
Refeat MM, El Saied MM, Abdel Raouf ER.
europepmc   +1 more source

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

Reproductive Biology and Endocrinology
Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI).
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge   +10 more
doaj   +1 more source

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.

PLoS ONE, 2014
BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Milo Careaga, Destanie Rose, Flora Tassone, Robert F Berman, Randi Hagerman, Paul Ashwood   +5 more
doaj   +1 more source

RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila

, 2003
Fragile X syndrome carriers have FMR1 alleles, called premutations, with an intermediate number of 5′ untranslated CGG repeats between patients (>200 repeats) and normal individuals (
Zarnescu, Daniela C., Moses, Kevin, Pearson, Christopher E., Jin, Peng, Zhang, Fuping, Lucchesi, John C., Warren, Stephen T.   +6 more
core   +1 more source

A neuropsychological investigation of male premutation carriers of fragile X syndrome

, 2004
It is currently thought that fragile X syndrome (FraX; the most common inherited form of learning disability) results from having more than 200 cytosine-guanine-guanine (CGG) trinucleotide repeats, with consequent methylation of the fragile X mental ...
Randi J. Hagerman, Declan G.M. Murphy, Flora Tassone, Hagerman, R J, Paul J. Hagerman, Daly, E M; id_orcid, Nicole Schmitz, Hagerman, P J, Kieran C. Murphy, Murphy, D G; id_orcid, Schmitz, N, Morris, R G, Carolyn Tysoe, Eileen M. Daly, Robin G. Morris, Murphy, K C, Tysoe, C, Moore, C J, Tassone, F, Caroline J. Moore   +19 more
core   +1 more source