Results 81 to 90 of about 3,423 (189)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers [PDF]

Frontiers in Molecular Neuroscience, 2016
Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder Fragile X-associated tremor ataxia syndrome (FXTAS).
Cecilia Giulivi, Cecilia Giulivi, Eleonora Napoli, Flora Tassone, Flora Tassone, Julian Halmai, Randi Hagerman, Randi Hagerman   +7 more
openaire   +5 more sources

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

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

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

BMC Medical Genetics, 2018
Background Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo, Maria Judit Molnar, György Fekete   +6 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

Additional file 1 of FMRpolyG accumulates in FMR1 premutation granulosa cells

, 2020
Additional file 1S. Mural granulosa cells of FMR1 premutation carriers exhibited FMRpolyG accumulation without ubiquitin inclusions. Two additional FMR1 premutation carriers demontrated FMRpolyG positive staining withoout co-localization with ubiquitin ...
H. Raanani (8498406), O. Dratviman-Storobinsky (8498400), R. Orvieto (8498409), M. Friedman-Gohas (8498394), S. Elizur (8498397), Y. Cohen (2254525), J. Haas (7015940), A. Aizer (8498403)   +7 more
core   +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

Screen for Excess FMR1 Premutation Alleles Among Males With Parkinsonism [PDF]

Archives of Neurology, 2007
Individuals with fragile X-associated tremor/ataxia syndrome frequently have associated features of parkinsonism, often leading to an initial diagnosis of Parkinson disease or other parkinsonism spectrum disorders. Parkinson disease populations may thus include individuals who harbor premutation expansions (55-200 CGG repeats) of the fragile X mental ...
Jeremy, Kraff, Hiu-Tung, Tang, Roberto, Cilia, Margherita, Canesi, Gianni, Pezzoli, Stefano, Goldwurm, Paul J, Hagerman, Flora, Tassone   +7 more
openaire   +2 more sources

Prevalence and implications of fragile X premutation screening in Thailand

Scientific Reports
The fragile X premutation is a public health concern worldwide. Implementing a comprehensive screening program for FMR1 premutation alleles could empower individuals and families with information, supporting informed health decisions and potentially ...
Areerat Hnoonual, Sunita Kaewfai, Chanin Limwongse, Pornprot Limprasert   +3 more
doaj   +1 more source

Clinical and molecular correlates in fragile X premutation females

eNeurologicalSci, 2017
The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
Poonnada Jiraanont, Stefan R. Sweha, Reem R. AlOlaby, Marisol Silva, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Glenda M. Espinal, Paul J. Hagerman, Susan M. Rivera, David Hessl, Randi J. Hagerman, Nuanchan Chutabhakdikul, Flora Tassone   +13 more
doaj   +1 more source