Results 61 to 70 of about 18,012 (216)

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known.
Wheeler, Anne C, Sideris, John, Hagerman, Randi, Berry-Kravis, Elizabeth, Tassone, Flora, Bailey, Donald B   +5 more
openaire   +4 more sources

Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models

Molecular Autism
Background Fragile X syndrome (FXS) is the most common inherited intellectual disability, caused by the loss of fragile X mental retardation protein (FMRP), which regulates neuronal signaling and plasticity.
Evangelia Pollali, Daniel Frías Donaire, Miguel Del Ángel, Yunus Emre Demiray, Sara Enrile Lacalle, Jan-Oliver Hollnagel, Anil Annamneedi, Gürsel Çalışkan   +7 more
doaj   +1 more source

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC Medical Genetics, 2007
Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre ...
D'Urso Michele, Chiurazzi Pietro, Laperuta Carmela, Miano Maria, Ursini Matilde   +4 more
doaj   +1 more source

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

Developmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 [PDF]

, 2014
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID).
Douglas, Evelyn, Metsu Sofie, Reyniers Edwin, Liesbeth Rooms (555530), Chandra Sekhar Reddy Chilamakuri, Martin S. Taylor (257588), Rainger, J., Wilson, David I., Wilson, D., Gecz, J., David R Fitzpatrick, Taylor, Martin S; id_orcid, Kooy, R., David I. Wilson, Kooy, R. Frank, Harris Morrison, Geert Vandeweyer (555532), Thompson Geoffrey, Wilson David I., Evelyn Douglas, Kooy, R Frank, FitzPatrick, D., David R. FitzPatrick (215024), Chilamakuri Chandra Sekhar Reddy, Vandeweyer, Geert, Bengani Hemant, R Frank Kooy, FitzPatrick David R., Eric Haan, R. Frank Kooy, Gecz Jozef, Eric Haan (62063), Jozef Gecz (9483), Edwin Reyniers, Gecz, Jozef, Harris Morrison (34143), Geoffrey Thompson (555535), Thompson, Geoffrey, Vandeweyer, G., Reyniers, Edwin, Haan, E., Rooms Liesbeth, Rooms, Liesbeth, Fitzpatrick, David R, Metsu, Sofie, FitzPatrick, David R., Geert Vandeweyer, Morrison Harris, Jozef Gecz, Taylor Martin S., Taylor, Martin S., Jacqueline Rainger, R. Frank Kooy (555536), Chandra Sekhar Reddy Chilamakuri (523131), Martin S. Taylor, Metsu, S., Evelyn Douglas (555534), Hemant Bengani, Rainger Jacqueline, Bengani, Hemant, Liesbeth Rooms, David R. FitzPatrick, Hemant Bengani (425074), Sofie Metsu (555529), Morrison, Harris, Chilamakuri, C., Kooy R. Frank, Taylor, M., Reyniers, E., Rainger, Jacqueline, Bengani, H., Rooms, L., Thompson, G., Haan Eric, Wilson, David I, David I. Wilson (164352), Martin S Taylor, Haan, Eric, Chilamakuri, Chandra Sekhar Reddy, David I Wilson, Douglas, E., Jacqueline Rainger (555531), Vandeweyer Geert, Edwin Reyniers (555533), Geoffrey Thompson, Sofie Metsu, Douglas Evelyn, Morrison, H.   +87 more
core   +1 more source

FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo

Cell Reports, 2019
Summary: Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin
Dan Vershkov, Nina Fainstein, Sapir Suissa, Tamar Golan-Lev, Tamir Ben-Hur, Nissim Benvenisty   +5 more
doaj   +1 more source

Modeling fragile X syndrome in the Fmr1 knockout mouse [PDF]

, 2014
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder.
Crawley, Jacqueline N, Silverman, Jill L, Kazdoba, Tatiana M, Leach, Prescott T   +3 more
core   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Cognitive Dysfunction in FMR1 Premutation Carriers [PDF]

Current Psychiatry Reviews, 2013
Premutation carriers of the fragile X mental retardation gene (especially men) older than 50 may develop a neurodegenerative disease, the fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers may present with varied cognitive impairments. Attention, working memory, declarative and procedural learning, information processing speed, and recall ...
Andreea, Seritan, Jennifer, Cogswell, Jim, Grigsby   +2 more
openaire   +2 more sources