Results 81 to 90 of about 3,802 (188)

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

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, Volume 98, Issue 6, Page 1178-1195, December 2025.
[Color figure can be viewed at www.annalsofneurology.org] Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and ...
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Gene Therapy for Fragile X Syndrome, Challenges, and Promises

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
Supplying the functional protein product of the FMR1 gene to the brain is an attractive concept for curative treatment of Fragile X syndrome. Despite existing challenges, recent developments establish the basis for developing efficient gene therapy protocols for this condition.
Milen Velinov
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

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, Volume 45, Issue 12, Page 1544-1558, November 2025.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 103-119, October 2025.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 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

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, Volume 98, Issue 3, Page 471-481, September 2025.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source