Results 101 to 110 of about 244,000 (312)

Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome

Journal of Neurodevelopmental Disorders, 2017
Background Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication
Hayley Crawford, Joanna Moss, Chris Oliver, Deborah Riby   +3 more
doaj   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

A diffusion-weighted imaging tract-based spatial statistics study of autism spectrum disorder in preschool-aged children

Journal of Neurodevelopmental Disorders, 2019
Background The core symptoms of autism spectrum disorder (ASD) are widely theorized to result from altered brain connectivity. Diffusion-weighted magnetic resonance imaging (DWI) has been a versatile method for investigating underlying microstructural ...
Derek Sayre Andrews, Joshua K. Lee, Marjorie Solomon, Sally J. Rogers, David G. Amaral, Christine Wu Nordahl   +5 more
doaj   +1 more source

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

, 2022
Andrew K. Sobering, Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat, John M. Graham, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch‐Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Véronique Pingault, Sandrine Marlin, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Alexander Holt, Oleksandra Petryna, Helen V. Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun‐Hui Tsai, Katherine R. Yearwood, Elysa Marco, C. Nowak, Jessica Douglas, Håkon Håkonarson, Elizabeth Bhoj   +38 more
openalex   +1 more source

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder [PDF]

, 2023
Ana Latorre, Laura Trujillano, J. Rincón, Mónica Peña-Marco, Marta Gil‐Salvador, Cristina Lucia‐Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, A. Ayerza Casas, Juan Pié   +10 more
openalex   +1 more source

The Microbiota Shapes Central Nervous System Myelination in Early Life

Advanced Science, EarlyView.
Gut microbiota shapes brain development by regulating myelination and glial cell maturation in early life. Using germ‐free (GF) mice and zebrafish, this study reveals sex‐ and age‐dependent effects on myelin growth, integrity, and related gene expression.
Caoimhe M. K. Lynch, Emily G. Knox, Daniel Soong, Thomaz F. S. Bastiaanssen, Kalevi Trontti, Gabriel S. S. Tofani, Sophia Ivaschuk, Michael K. Collins, Donia Arafa, Jatin Nagpal, Iiris Hovatta, David A. Lyons, Gerard Clarke, John F. Cryan   +13 more
wiley   +1 more source

The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands

Journal of Patient-Reported Outcomes
Background Half of the patients with Neurofibromatosis type 1 (NF1) develop one or more tumours called plexiform neurofibromas, which can have a significant impact on Quality of Life (QoL). The PlexiQoL questionnaire is a disease-specific QoL measure for
Britt A. E. Dhaenens, Sarah A. van Dijk, Walter Taal, D. Christine Noordhoek, Anna Coffey, Stephen P. McKenna, Rianne Oostenbrink   +6 more
doaj   +1 more source

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort

Molecular Autism, 2018
ᅟ EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD).
Johan Isaksson, Kristiina Tammimies, Janina Neufeld, Élodie Cauvet, Karl Lundin, Jan K. Buitelaar, Eva Loth, Declan G. M. Murphy, Will Spooren, Sven Bölte, the EU-AIMS LEAP group   +10 more
doaj   +1 more source

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability [PDF]

, 2020
Audrey Schalk, Margot A. Cousin, Thomas D. Challman, Karen E. Wain, Zöe Powis, Kelly Q. Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombre, Chloé Angelini, Vincent Michaud, Julien Van‐Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Raymond J. Louie, Brendan C. Lanpher, Jennifer L. Kemppainen, A. Micheil Innes, R. Frank Kooy, Marije Meuwissen, Alice Goldenberg, François Lecoquierre, Gabriella Vera, Karin E. M. Diderich, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F. Hamdan, Jacques L. Michaud, Ann J. Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen L.I. van Gassen, Eva H. Brilstra, Gina Itzikowitz, Emily O’Heir, Jake Allen, Kirsten A. Donald, Bruce R. Korf, Tammi Skelton, Michelle L. Thompson, Nathaniel H. Robin, Natasha L. Rudy, William B. Dobyns, Kimberly Foss, Yuri A. Zárate, Katherine A. Bosanko, Yves Alembik, Benjamin Durand, Frédéric Tran Mau‐Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E. Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T. Zimmermann, Nikita R. Dsouza, Eric W. Klee, Amélie Piton, Bénédicte Gérard   +71 more
openalex   +1 more source

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]

, 2019
BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar, Chow, Julie, Girirajan, Santhosh, Hormozdiari, Farhad, Hormozdiari, Fereydoun, Jensen, Matthew, Penn, Osnat, Shifman, Sagiv   +7 more
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