Results 41 to 50 of about 14,330 (189)

Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.

PLoS Genetics, 2010
Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG trinucleotide repeat in the 5'UTR of the fragile X syndrome (FXS) gene, FMR1.
Peter K Todd, Seok Yoon Oh, Amy Krans, Udai B Pandey, Nicholas A Di Prospero, Kyung-Tai Min, J Paul Taylor, Henry L Paulson   +7 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice

Bone Research, 2023
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale, Julián Balanta-Melo, Amy Creecy, Chongshan Liu, Alejandro Marcial, Laura Morales, Julita Cridlin, Sylvia Robertson, Chiebuka Okpara, David J. Sanchez, Mahdi Ayoubi, Joaquín N. Lugo, Christopher J. Hernandez, Joseph M. Wallace, Lilian I. Plotkin   +14 more
doaj   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence

Journal of Neurodevelopmental Disorders, 2017
Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter, Jane E. Roberts   +4 more
doaj   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

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

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.

PLoS ONE, 2014
AimTo assess the role of mRNA accumulation in granulosa cells as the cause of low ovarian response among FMR1 premutation carriers undergoing pre-implantation genetic diagnosis (PGD).DesignCase control study in an academic IVF unit.
Shai E Elizur, Oshrit Lebovitz, Sanaz Derech-Haim, Olga Dratviman-Storobinsky, Baruch Feldman, Jehoshua Dor, Raoul Orvieto, Yoram Cohen   +7 more
doaj   +1 more source