Results 111 to 120 of about 3,423 (189)

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

Autism spectrum disorders in FMR1 premutation carriers

, 2018
Os transtornos do espectro autista (TEA) são caracterizados por dificuldades na interação social e na comunicação, interesses restritos e comportamentos estereotipados.
Girardi, Ana Cristina De Sanctis
core   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.

, 2008
OBJECTIVE: To compare the prevalence of intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency (oPOI) and in controls. DESIGN: Observational study.
Moix, I., Ibecheole, V., Morris, M.A., Streuli, I., de Ziegler, D., Fraisse, T.   +5 more
core   +1 more source

Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. [PDF]

Exp Brain Res, 2023
Friedman L, Lauber M, Behroozmand R, Fogerty D, Kunecki D, Berry-Kravis E, Klusek J.   +6 more
europepmc   +1 more source

Associations Between Rate Of Speech And Cardiac Arousal Within Females That Express The Fmr1 Premutation

, 2016
The focus of this research is on women who have the FMR1 gene premutation. Those with the premutation are “carriers” of the fragile X mutation. The FMR1 premutation is highly prevalent within the United States, affecting 1 in every 151 women.
Harris, Emma
core  

Symptoms of Tremor In Women With the FMR1 Premutation

, 2020
Fragile X Syndrome is a genetic disorder caused by a mutation on the X chromosome and is known to be one of the leading causes of autism. Our research dealt with carriers of the Fragile X Mental Retardation 1 (FMR1) premutation, or, more specifically ...
Tindal, Emily, Johnson, Gabriella
core  

Functional MRI in FMR1 premutation carriers: a cross-sectional study of neurodegeneration and neurodevelopment [PDF]

, 2017
Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the FMR1 premutation. Carriers of the FMR1 premutation may develop a neurodegenerative disease called fragile X-associated tremor ...
Brown, Stephanie Sian Gabriella
core  

Reduced Eye Contact and Anxiety in Women with the FMR1 Premutation

, 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  

Startle Response in Women with the FMR1 Premutation and Risk for Anxiety Disorders

, 2020
Background: The FMR1 premutation, which occurs when there is an expansion of 55 -200 repeats of the CGG trinucleotide on the FMR1 gene, is associated with an increased risk for anxiety disorders.
Lateef, Azalfa
core