Results 101 to 110 of about 5,127 (199)

Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders

Frontiers in Genetics, 2018
Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic ...
Xiao-Nan Zhao, Karen Usdin
doaj   +1 more source

Premutation Women in an Unselected Community‐Based Cohort

, 2021
BackgroundPremutation- sized (55- 200) CGG repeat expansions in the FMR1 gene cause fragile X- associated tremor/ataxia syndrome (FXTAS). Most studies of premutation carriers utilized reverse ascertainment to identify patients, leading to a selection ...
Todd, Peter K., Leann DaWalt, Marsha R. Mailick, Arezoo Movaghar, Elizabeth M. Berry‐Kravis, Hong, Jinkuk, Berry‐kravis, Elizabeth M., Mailick, Marsha R., Brilliant, Murray H., Movaghar, Arezoo, Jaime Boero, Boero, Jaime, DaWalt, Leann, Jinkuk Hong, Peter K. Todd, Murray H. Brilliant, Deborah Hall, Hall, Deborah   +17 more
core   +1 more source

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer’s Disease

Clinical Interventions in Aging, 2020
Elber Yuksel Aydin, 1, 2 Andrea Schneider, 1, 3 Dragana Protic, 1, 4 Jun Yi Wang, 1, 5 Veronica Martínez-Cerdeño, 1, 6 Flora Tassone, 1, 7 Hiu-Tung Tang, 7 Susan Perlman, 8 Randi J Hagerman 1, 3 1Medical Investigation of Neurodevelopmental
Aydin EY, Schneider A, Protic D, Wang JY, Martínez-Cerdeño V, Tassone F, Tang HT, Perlman S, Hagerman RJ   +8 more
doaj  

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

Frontiers in Neurology, 2018
Autosomal dominant inherited Myotonic dystrophy type 1 and 2 (DM1 and DM2) are the most frequent muscle dystrophies in the European population and are caused by repeat expansion mutations.
Alexis S. Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost, Wolfram Kress   +6 more
doaj   +1 more source

Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil

Anais da Academia Brasileira de Ciências
: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene.
JORGE F.B. FERREIRA, JACQUELINE S. BATISTA, CLEITON FANTIN   +2 more
doaj   +1 more source

Fentanyl overdose in a female with the FMR1 premutation and FXTAS. [PDF]

Journal of molecular genetics (Isleworth, London, England), 2018
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects individuals with 55-200 CGG repeats (premutation) in the 5'-untranslated region of the fragile X mental retardation 1 (FMR1) gene. FXTAS is a progressive neurodegenerative disorder associated with an action tremor, cerebellar ataxia memory and executive function deficits, autonomic dysfunction
El-Deeb, Marwa, Adams, Patrick, Schneider, Andrea, Salcedo-Arellano, Maria J, Tassone, Flora, Hagerman, Randi   +5 more
openaire   +3 more sources

Reduced Eye Contact and Anxiety in Women with the FMR1 Premutation [PDF]

, 2017
Background. Mothers of children with fragile X syndrome (FXS) have the FMR1 premutation, which affects approximately 1 in 151 women (Seltzer et al., 2012).
Ruber, Alexis
core   +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

Antisaccade Performance as a Measure of Executive Dysfunction in Women With the \u3ci\u3eFMR1\u3c/i\u3e Premutation [PDF]

, 2020
Women with the FMR1 premutation appear to be at increased risk for executive dysfunction. Findings in this regard have been mixed, leading to controversy surrounding the executive phenotype.
Schmitt, Lyndsay
core  

A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report

, 2019
A proportion of patients with the phenotype of complex genetic disorders carry dominantly inherited Mendelian traits, exemplified by hereditary spastic paraparesis influencing pyramidal symptoms in some MS cases.
Andersen, Oluf,, Lindberg, Christopher,, Wiklund, L., Axelsson, Markus,, Sundal, Christina,   +4 more
core   +1 more source