Results 71 to 80 of about 3,802 (188)

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

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

An Autopsy Case With Fragile X‐Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Ayako Shioya, Kazuhiro Ishii, Taiki Sato, Masayuki Noguchi, Akira Tamaoka, Yuko Saito   +5 more
wiley   +1 more source

Premature ovarian failure (POF) in Brazilian fragile X carriers

Genetics and Molecular Biology, 1999
The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives ...
Angela M. Vianna-Morgante, Silvia S. Costa, Rita de C.M. Pavanello, P.A. Otto, Regina C. Mingroni-Netto   +4 more
doaj   +1 more source

RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]

, 2009
Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core  

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

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

International Journal of Neonatal Screening, 2018
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia.
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field   +8 more
doaj   +1 more source

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 607-611, March 2026.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +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