Results 81 to 90 of about 5,990,156 (184)

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation

Scientific Reports, 2022
The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include ...
Ye Hyun Hwang, Bruce Eliot Hayward, Marwa Zafarullah, Jay Kumar, Blythe Durbin Johnson, Peter Holmans, Karen Usdin, Flora Tassone   +7 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

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)

Scientific Reports, 2020
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55–200 CGG repeats in the Fragile X mental retardation (FMR1 ...
Marwa Zafarullah, Hiu-Tung Tang, Blythe Durbin-Johnson, Emily Fourie, David Hessl, Susan M. Rivera, Flora Tassone   +6 more
doaj   +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

Age-related functional brain changes in FMR1 premutation carriers

NeuroImage: Clinical, 2018
The FMR1 premutation confers a 40–60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia,
Stephanie S.G. Brown, Shinjini Basu, Heather C. Whalley, Peter C. Kind, Andrew C. Stanfield   +4 more
doaj   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, Volume 41, Issue 1, Page 70-83, January 2026.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Mind the Gap: A Systematic Review of Borderline Intellectual Functioning in Childhood and Adolescence

Behavioural Neurology, Volume 2026, Issue 1, 2026.
Background Borderline intellectual functioning (BIF) is characterized by an IQ between 70 and 84/85, representing a cognitive condition associated with significant learning, academic, and behavioral challenges. Despite its prevalence and impact, BIF remains underrecognized in diagnostic classifications, leading to inconsistent clinical management and ...
Paolo Stievano, Valeria Mammarella, Carlo Di Brina, Enzo Emanuele   +3 more
wiley   +1 more source

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders

Human Mutation, Volume 2026, Issue 1, 2026.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single‐nucleotide variants (SNVs) and structural variants (SVs), including copy‐number variants (CNVs), have been reported as ...
Mehmet Burak Mutlu, Özge Beyza Gündoğdu Öğütlü, Özlem Öz, Fahrettin Duymuş, Serhat Seyhan, Ayşe Gül Bayrak Tokaç, Esad Tezcan, Hakan Öğütlü, Fatma Demiryılmaz, Nurcan Silahtarlıoğlu, Kader Bilgil, Sümeyye Elma, Murat Erdoğan, Hakan Gümüş, Sefer Kumandaş, Fethiye Kılıçaslan, Baisakhi Banerjee   +16 more
wiley   +1 more source

Case Series of Vestibular Migraine in Fragile X Premutation Carriers [PDF]

This case series plus review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation.
Hagerman, Randi, Tak, YeEun, Tassone, Flora   +2 more
core   +1 more source

Familial Premature Ovarian Failure in Female Premutated Carriers of Fragile X Syndrome: a Case Report and Literature Review

Taiwanese Journal of Obstetrics & Gynecology, 2006
Objective: The fragile X syndrome is the most common form of familial mental retardation. Most males with the FMR1 full mutation function in the mentally retarded range of intelligence.
Yu-Shiou Lin, Man-Li Yang
doaj   +1 more source