Results 61 to 70 of about 5,990,156 (184)

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

PLoS ONE, 2011
Fragile X associated disorders are caused by a premutation allele in the fragile X mental retardation 1 gene (FMR1) and are hypothesized to result from the toxic effect of elevated levels of expanded FMR1 transcripts.
Carolyn M Yrigollen, Federica Tassone, Blythe Durbin-Johnson, Flora Tassone   +3 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, Volume 201, Issue 6, Page 406-419, September 2026.
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

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome [PDF]

Journal of Neurodevelopmental Disorders, 2014
Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as ...
Berman, Robert F, Buijsen, Ronald AM, Usdin, Karen, Pintado, Elizabeth, Kooy, Frank, Pretto, Dalyir, Pessah, Isaac N, Nelson, David L, Zalewski, Zachary, Charlet-Bergeurand, Nicholas, Willemsen, Rob, Hukema, Renate K   +11 more
openaire   +6 more sources

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2045-2058, September 2026.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

Molecular Medicine, 2016
A 55–200 expansion of the CGG nucleotide repeat in the 5′-UTR of the fragile X mental retardation 1 gene (FMR1) is the hallmark of the triplet nucleotide disease known as the “premutation” as opposed to those with >200 repeats, known as the full mutation
Gyu Song, Eleonora Napoli, Sarah Wong, Randi Hagerman, Siming Liu, Flora Tassone, Cecilia Giulivi   +6 more
doaj   +1 more source

Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals

Frontiers in Neuroscience, 2018
We conducted a knowledge, attitude, and practice (KAP) survey of fragile X-associated disorders (FXD) in Serbia in order to obtain baseline quantitative and qualitative KAP data on fragile X mental retardation 1 gene (FMR1) pre- and full mutations (PM ...
Dejan B. Budimirovic, Smiljana Cvjetkovic, Zoran Bukumiric, Phan Q. Duy, Dragana Protic   +4 more
doaj   +1 more source

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 9, Page 945-961, September 2026.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation And Intermediate Allele Carriers [PDF]

, 2018
Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with \u3e200 repeats have FXS, while individuals between 45-54 and 55- 200 repeats have the FMR1 intermediate allele and premutation, respectively.
Saadat Girnary, Zahra
core   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source