Results 21 to 30 of about 91,816 (261)

Fragile X Syndrome Workshop

Pediatric Neurology Briefs, 2000
The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
doaj   +1 more source

Knowledge, attitudes, and perspectives on gene therapy for Fragile X syndrome: results from two community and caregiver surveys

Frontiers in Molecular Neuroscience
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, resulting from CGG trinucleotide repeat expansion in the FMR1 gene and consequent absence of Fragile X Messenger Ribonucleoprotein (FMRP).
Vivian Chen, Marisa Vomvos, Anna De Sonia, Hilary Rosselot, Reymundo Lozano, Reymundo Lozano, Reymundo Lozano   +6 more
doaj   +1 more source

From learning to memory: what flies can tell us about intellectual disability treatment.

Frontiers in Psychiatry, 2015
Intellectual disability (ID), previously known as mental retardation, affects 3 % of the population and remains without pharmacological treatment. ID is characterized by impaired general mental abilities with associated defects in adaptive function in ...
Alaura eAndroschuk, Basma eAl-Jabri, Francois eBolduc   +2 more
doaj   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy

Orphanet Journal of Rare Diseases
Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari   +8 more
doaj   +1 more source

Psychopathology in Fragile X Syndrome

Pediatric Neurology Briefs, 1989
The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
doaj   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source

A Lightweight Procedural Layer for Hybrid Experimental–Computational Workflows in Materials Science

Advanced Engineering Materials, EarlyView.
We unveil a prototype hybrid‐workflow framework that fuses automatedcomputation with hands‐on experiments. Built atop pyiron, a lightweight, parameterized layer translates procedure descriptions into executable manual steps, syncing instrument settings, human interventions, and data capture in real‐time today.
Steffen Brinckmann, Sarath Menon, Raphael Röske, Johannes Steinhülb, Michael Selzer, Jan Janssen, Tilmann Hickel, Ruth Schwaiger, Jörg Neugebauer   +8 more
wiley   +1 more source

Neuroanatomy of Fragile X Syndrome

Pediatric Neurology Briefs, 1991
Posterior fossa abnormalities measured by magnetic resonance images of the brain were reported in a group of 14 males with fragile X syndrome from the Division of Child Psychiatry, and the Departments of Psychiatry and Radiology, The Johns Hopkins ...
J Gordon Millichap
doaj   +1 more source

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +1 more source