Results 101 to 110 of about 4,503 (204)

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

Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?

Frontiers in Neuroscience, 2018
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50.
Annie L. Shelton, Annie L. Shelton, Annie L. Shelton, Jun Y. Wang, Jun Y. Wang, Jun Y. Wang, Emily Fourie, Emily Fourie, Emily Fourie, Flora Tassone, Flora Tassone, Anna Chen, Lauren Frizzi, Randi J. Hagerman, Randi J. Hagerman, Emilio Ferrer, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Susan M. Rivera   +20 more
doaj   +1 more source

Clinical and molecular correlates in fragile X premutation females [PDF]

, 2017
The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
Randi J. Hagerman, Poonnada Jiraanont, Stefan R. Sweha, Schneider, Andrea, Reem R. AlOlaby, Marisol Silva, Hagerman, Randi J, Espinal, Glenda M, Tassone, Flora, Blythe Durbin-Johnson, Rivera, Susan M, Flora Tassone, Paul J. Hagerman, Chutabhakdikul, Nuanchan, David Hessl, Sweha, Stefan R, Susan M. Rivera, Silva, Marisol, Hiu-Tung Tang, Durbin-Johnson, Blythe, Glenda M. Espinal, Tang, Hiu-Tung, Andrea Schneider, Hessl, David, Jiraanont, Poonnada, Nuanchan Chutabhakdikul, AlOlaby, Reem R, Hagerman, Paul J   +27 more
core   +1 more source

Broad clinical involvement in a family affected by the fragile X premutation [PDF]

, 2009
The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with
Randi J. Hagerman, Agustini Utari, Flora Tassone, Chonchaiya, W, Utari, A, Tassone, F, Pereira, GM, David Hessl, Hagerman, RJ, Hessl, D, Gabriela Marques Pereira, Weerasak Chonchaiya   +11 more
core   +1 more source

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation

, 2017
The fragile X syndrome is a mutation-driven developmental disorder caused by a repetition over 200 times of the CGG trinucleotide situated in the 5′-untranslated region of the fragile X mental retardation 1 gene (FMR1).
Martínez, Raquel, Conde Medina, Silvia, Lama, María José, Palomar, F. J., Carrillo, Fátima, Mir, Pablo, Pintado, Elisabeth   +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

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

Magnetic resonance imaging study in older fragile X premutation male carriers

, 2015
Some carriers of a "premutation" allele of the FMR1 gene develop late-onset tremor/ataxia. We conducted a magnetic resonance imaging volumetric study in an unselected sample of eight older male premutation carriers.
Brotchie, Peter, Cook, Mark, Litewka, Lucas, Loesch, Danuta Z, Huggins, Richard, Tassone, Flora   +5 more
core   +1 more source

Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure

, 2003
Objective : To explore the incidence of fragile X premutation in patients with idiopathic premature ovarian failure, particularly in the Korean population. Design : A prospective study.
이병석
core  

Tremor and ataxia in fragile X premutation carriers: blinded videotape study

, 2003
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late-onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers.
Hagerman, Paul, Leehey, Maureen, Hagerman, Randi, Goetz, Christopher G, Berry-Kravis, Elizabeth, Wuu, Joanne, Lewin, Foster   +6 more
core   +1 more source