Results 51 to 60 of about 3,423 (189)

Table_1_Sensorimotor and inhibitory control in aging FMR1 premutation carriers.docx

, 2023
Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these ...
Lauren M. Schmitt (7040129), Matthew W. Mosconi (6758468), Heather Fielding-Gebhardt (9437626), Stormi L. Pulver (17400538), Kathryn E. Unruh (11109024), Pravin Khemani (3202998), Shannon E. Kelly (5950025)   +6 more
core   +1 more source

Association between the FMR1 CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis

Artificial Cells, Nanomedicine, and Biotechnology, 2019
Aim Reports on the association of the CGG repeat length in the FMR1 gene with the severity of idiopathic POI are inconclusive. Therefore, a meta analysis was performed to investigate the relationship between the expansion of repeat CGG and idiopathic POI
Jing Huang, Wenxiang Zhang, Yingchun Liu, Ying Liu, Jing Wang, Hong Jiang   +5 more
doaj   +1 more source

Executive Function and Working Memory Deficits in Females with Fragile X Premutation

Life, 2023
The Fragile X premutation is a genetic instability of the FMR1 gene caused by 55–199 recurrences of the CGG sequence, whereas there are only 7–54 repeats of the CGG sequence in the normal condition.
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis   +3 more
doaj   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
doaj   +1 more source

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core  

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

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

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