Results 161 to 170 of about 3,423 (189)

Functional motor control deficits in older FMR1 premutation carriers

Experimental Brain Research, 2019
Individuals with fragile X mental retardation 1 (FMR1) gene premutations are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Seoung Hoon Park, Zheng Wang, Walker S Mckinney   +2 more
exaly   +1 more source

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Executive Dysfunction in Female FMR1 Premutation Carriers

The Cerebellum, 2016
There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored ...
Annie L, Shelton, Kim M, Cornish, Claudine M, Kraan, Reymundo, Lozano, Minh, Bui, Joanne, Fielding   +5 more
openaire   +2 more sources

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

The Cerebellum, 2016
The wide spectrum of clinical phenotypes associated with the FMR1 premutation affect more than two million people worldwide. The clinical implications have only been recognized recently despite this disorder constitutes a relevant health problem.
Montserrat, Milà, Laia, Rodriguez-Revenga, Antoni, Matilla-Dueñas   +2 more
openaire   +2 more sources

Mood and anxiety disorders in females with the FMR1 premutation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008
AbstractFragile X syndrome (FXS) is a model for studying the relative contributions of genetic and environmental factors to psychiatric disorders in mothers of children with disabilities. Here, we examine the frequency and predictors of mood and anxiety disorders in mothers with the FMR1 premutation.
Jane E, Roberts, Donald B, Bailey, Jean, Mankowski, Amy, Ford, John, Sideris, Leigh Anne, Weisenfeld, T Morgan, Heath, Robert N, Golden   +7 more
openaire   +2 more sources

Dystonia in FMR1 Premutation Carriers (P01.222)

Neurology, 2012
Objective: 1) To investigate the prevalence of dystonia in Fragile X mental retardation ( FMR1 ) premutation carriers with or without Fragile X-associated tremor/ataxia syndrome (FXTAS) compared to normal controls. (2) To investigate the association in the FMR1 premutation carriers between dystonia and FMR1 CGG repeat length and gender ...
C. Vaughan, B. Ouyang, C. Goetz, E. Berry-Kravis, R. Hagerman, M. Leehey, D. Hall   +6 more
openaire   +1 more source

FMR1 Premutation Allele (CGG)(81) Is Stable in Mice

European Journal of Human Genetics, 1997
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5' UTR of the FMR1 gene. A lot has been elucidated about the genetics of the disease, but not much is known about the mechanisms involved in repeat instability. Transgenic animals with a premutation allele [(CGG)11AGG(CGG)60CAG(CGG)8] in the human FMR1 promoter were generated
Bontekoe, CJM (Carola), Graaff, Esther, Bakker, Ingeborg, Willemsen, Rob, Oostra, Ben   +4 more
openaire   +3 more sources

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation

The Cerebellum, 2016
Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). Female FMR1 premutation carriers rarely develop motor features. Dual pathology is an emerging phenomenon among FMR1 premutation carriers.
Martin, Paucar, Stanislav, Beniaminov, Wojciech, Paslawski, Per, Svenningsson   +3 more
openaire   +2 more sources

Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism

Archives of Neurology, 2009
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive, late-onset neurodegenerative disease that affects older carriers of premutation (CGG) repeat expansions of the fragile X mental retardation 1 (FMR1) gene. Clinical features include intention tremor, gait ataxia, memory loss, peripheral neuropathy, autonomic dysfunction, and ...
Roberto, Cilia, Jeremy, Kraff, Margherita, Canesi, Gianni, Pezzoli, Stefano, Goldwurm, Khalid, Amiri, Hiu-Tung, Tang, Ruiqin, Pan, Paul J, Hagerman, Flora, Tassone   +9 more
openaire   +2 more sources

FMR1 premutation in females diagnosed with multiple sclerosis

Journal of Neurology, Neurosurgery & Psychiatry, 2009
Fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects individuals with premutation alleles of the fragile X mental retardation ( FMR1 ) gene. The clinical features of FXTAS include intention tremor, ataxia, parkinsonism, peripheral neuropathy, autonomic dysfunction and cognitive impairment.1 Such symptoms are ...
L Zhang, S Coffey, L L Lua, C M Greco, J A Schafer, J Brunberg, M Borodyanskaya, M A Agius, M Apperson, M Leehey, N Tartaglia, F Tassone, P J Hagerman, R J Hagerman   +13 more
openaire   +1 more source

[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]

Harefuah, 2018
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats ...
Shai, Elizur, Michal, Berkenstadt, Liat, Ries-Levavi, Noah, Gruber, Orit, Pinhas-Hamiel, Sharon, Hassin-Baer, Annick, Raas-Rothschild, Hila, Raanani, Tali, Cukierman-Yaffe, Raoul, Orvieto, Yoram, Cohen, Lidia, Gabis   +11 more
openaire   +1 more source