Results 81 to 90 of about 4,503 (204)

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins

Frontiers in Genetics, 2018
Mitochondrial dysfunction (MD) has been identified in lymphocytes, fibroblasts and brain samples from adults carrying a 55–200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene (premutation; PM); however, limited data are available on the ...
Eleonora Napoli, Andrea Schneider, Andrea Schneider, Randi Hagerman, Randi Hagerman, Gyu Song, Sarah Wong, Flora Tassone, Flora Tassone, Cecilia Giulivi, Cecilia Giulivi   +10 more
doaj   +1 more source

New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

Frontiers in Genetics, 2014
Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline and parkinsonism in individuals who carry between 55-200 CGG repeats in the promoter region of the fragile X mental retardation 1 ...
Avram eFraint, Padmaja eVittal, Aimee eSzewka, Bryan eBernard, Elizabeth eBerry-Kravis, Deborah eHall   +5 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

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

Journal of Ovarian Research
Background Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga   +9 more
doaj   +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

Suppressing Glycerol‐3‐phosphate Phosphatase and Enhancing Glycerol‐3‐Phosphate Shuttle Flux Crucial for High‐Efficiency Fatty Acid Production in the Fast‐Growing Oleaginous Schizochytrium

Advanced Science, Volume 12, Issue 45, December 4, 2025.
This study establishes an efficient oleaginous heterotrophic microalga, Schizochytrium, through chassis optimization and metabolic engineering, significantly enhancing fatty acid titers and productivities. It also identifies a regulatory mechanism that coordinates biomass and lipid synthesis, providing a rational target for metabolic pathway rewiring ...
Fangzhong Wang, Weijia Jin, Tiantian Wang, Junkai Ji, Kun Cao, Jianqiang Li, Lei Chen, Weiwen Zhang   +7 more
wiley   +1 more source

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene.
Noctor, SC, Cerdeno, VM, Porras, EN, Prakash, AN, Berman, RF, Angelastro, JM, Cunningham, CL, Willemsen, Rob, Hagerman, PJ, Pessah, IN   +9 more
core   +1 more source

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families [PDF]

, 2017
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may ...
Riley, Catharine, Catharine Riley, Anne Wheeler, Marsha Mailick, Melissa Raspa, Hagerman, Randi, Raspa, Melissa, Wheeler, Anne, Randi Hagerman, Mailick, Marsha   +9 more
core   +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