Results 161 to 170 of about 463,034 (316)

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino   +11 more
wiley   +1 more source

Cognitive Training and Familly Therapy in Rehabilitation of Schizophrenic Patients: Cognitive and Social Results [PDF]

, 1997
Adriano Zanello, B. Villacastin, S Ehrensperger, R. Eiselé   +3 more
openalex   +1 more source

Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism

Advanced Science, EarlyView.
By investigating auditory hyperexcitability in a mouse model for hereditary deafness, this study identified a subpopulation of afferent neurons of the auditory nerve marked by Otogl expression. Despite their apparently normal hearing, Otogl+/− mice display poor activation of afferent neurons processing loud sounds and an elevation of the middle the ear
Mathilde Gagliardini, Sabrina Mechaussier, Carolina Campos Pina, Monica Morais, Olivier Postal, Philippe Jean, Typhaine Dupont, Amrit Singh‐Estivalet, Shéhanie Udugampolage, Cyril Scandola, Elisabeth Verpy, Baptiste Libé‐Philippot, Talya C. Inbar, Joanna Schwenkgrub, Carla Maria Barbosa Spinola, Raphaël Etournay, Aziz El‐Amraoui, Brice Bathellier, Adeline Mallet, Sedigheh Delmaghani, Fabrice Giraudet, Christine Petit, Boris Gourévitch, Paul Avan, Nicolas Michalski   +24 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Dyslexia risk gene relates to representation of sound in the auditory brainstem

Developmental Cognitive Neuroscience, 2017
Dyslexia is a reading disorder with strong associations with KIAA0319 and DCDC2. Both genes play a functional role in spike time precision of neurons.
Nicole E. Neef, Bent Müller, Johanna Liebig, Gesa Schaadt, Maren Grigutsch, Thomas C. Gunter, Arndt Wilcke, Holger Kirsten, Michael A. Skeide, Indra Kraft, Nina Kraus, Frank Emmrich, Jens Brauer, Johannes Boltze, Angela D. Friederici   +14 more
doaj  

Are Large Language Models Possible to Conduct Cognitive Behavioral Therapy? [PDF]

arXiv
In contemporary society, the issue of psychological health has become increasingly prominent, characterized by the diversification, complexity, and universality of mental disorders. Cognitive Behavioral Therapy (CBT), currently the most influential and clinically effective psychological treatment method with no side effects, has limited coverage and ...
arxiv  

Review: individual applied relaxation and cognitive behavioural therapy are effective psychological treatments for generalised anxiety disorder [PDF]

, 2000
Bruce A. Thyer
openalex   +1 more source

Role of Testosterone Signaling in Microglia: A Potential Role for Sex‐Related Differences in Alzheimer's Disease

Advanced Science, EarlyView.
Testosterone enhances Aβ‐induced autophagy in microglia via the non‐genomic testosterone receptor GPRC6A, promoting Aβ clearance by suppressing ERK phosphorylation and inhibiting mTOR activation. In male 5xFAD mice, testicular removal reduces microglial autophagy and Aβ clearance, which is restored by testosterone.
Haiyan Du, Akiko Mizokami, Junjun Ni, Simeng Zhang, Yosuke Yamawaki, Tomomi Sano, Eijiro Jimi, Isei Tanida, Takashi Kanematsu   +8 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Cognitive Therapy for the Suicidal Patient: A Case Study

, 1998
Christine E. Reilly
openalex   +1 more source