Results 131 to 140 of about 276,867 (293)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Autism spectrum disorders

Anales de Pediatría (English Edition), 2014
Christine M. Freitag, Tomasz A. Jarczok
openaire   +3 more sources

Successful passive sentence comprehension among Danish adolescents with autism spectrum disorders

Autism and Developmental Language Impairments, 2018
Background and aims Language abilities vary greatly across children with autism spectrum disorders (ASD). In the present study, we investigate passive sentence comprehension, which has been underexplored among individuals with autism spectrum disorders ...
Kristine Jensen de López, Kristen Schroeder, Anna Gavarró   +2 more
doaj   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

The emotional contagion in children with autism spectrum disorder [PDF]

, 2016
Studies of the last decade have demonstrated that children with Autism Spectrum Disorder (ASD) showed difficulties in language, social and relational areas, but they had also impairment in the mechanisms of embodied simulation, namely the imitative ...
Bianchi Di Castelbianco, F., Di Renzo, M., Donaera, F., Petrillo, M., Racinaro, L., REA, MONICA   +5 more
core  

Quantitative but Not Qualitative Differences: A Longitudinal Analysis of Grammatical Marker Development in Mandarin‐Speaking Autistic Children

Autism Research, EarlyView.
ABSTRACT Past research has revealed large differences between typically developing (TD) and autistic children's language development. However, little is known about whether such differences are quantitative or qualitative, especially in the morphosyntactic domain.
Ziyan Meng, Li Wang, Hoyee W. Hirai, Patrick C. M. Wong   +3 more
wiley   +1 more source

Changes in Intrinsic Activity of the Primary Somatosensory Cortex Causally Explain Differences in Emotion Perception in Autism

Autism Research, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is characterized by certain difficulties in emotion‐related processing. Recent research using electroencephalography (EEG) to measure somatosensory evoked potentials during emotion perception has shown reduced embodiment of emotional expressions in autistic compared to neurotypical individuals, independently from
Martina Fanghella, Danai Dima, Dimitrios Pinotsis, Sebastian B. Gaigg, Beatriz Calvo‐Merino, Bettina Forster   +5 more
wiley   +1 more source

Does the Extreme Male Brain Hypothesis of Autism Apply More to Females Than Males? A Systematic and Meta‐Analytic Approach

Autism Research, EarlyView.
ABSTRACT The extreme male brain (EMB) hypothesis posits that autism risk is mediated by high systemizing and low empathizing. This hypothesis has accrued extensive support, but the degree to which it applies in females compared to males, and the relative extent to which autism is associated with empathizing compared to systemizing, is unclear ...
Cory Szakal, Bernard Crespi
wiley   +1 more source

Does Camouflaging Predict Functioning, Distress, and Quality of Life for Autistic Adults?

Autism Research, EarlyView.
ABSTRACT It has been proposed that autistic individuals adopt camouflaging strategies to mask their autistic traits and conform to social norms, and that these camouflaging strategies have been linked to adverse mental health outcomes. This study examined whether camouflaging, measured by the Camouflaging Autistic Traits Questionnaire (CAT‐Q ...
Bruna B. Roisenberg, Kelsie A. Boulton, Emma E. Thomas, Adam J. Guastella   +3 more
wiley   +1 more source

Positive outcome with neurofeedback treatment in a case of child with mild Autism Spectrum Disorder [PDF]

, 2014
Autism is a neurological disorder characterized by a lack of appropriate eye contact, facial expression, social interaction, communication, and restricted repetitive behavior.
Wong, Siao Yen, Yeo, Kee Jiar
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