Results 141 to 150 of about 15,229 (236)

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

P3‐583: IS SUBJECTIVE SLEEP DISTURBANCE ASSOCIATED WITH COGNITION IN A POPULATION‐BASED SAMPLE OF 70‐YEAR‐OLDS FOLLOWED OVER 15 YEARS? [PDF]

, 2019
Johan Skoog, Boo Johansson, Ingmar Skoog, Valgeir Thorvaldsson   +3 more
openalex   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

An Exploratory Study of Sleep-Wake Disturbances in Advanced Lung Cancer Patients

, 2015
Claudette Taylor
openalex   +1 more source

A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus

Arthritis &Rheumatology, EarlyView.
Objective Patients with features of systemic lupus erythematosus (SLE) who do not fulfill classification criteria can be designated as incomplete lupus erythematosus (ILE). This condition includes individuals with a high risk of progression to SLE. Treatment of ILE may reduce symptoms, severity, and incidence of SLE.
Nancy J. Olsen, Duanping Liao, Judith A. James, Joel M. Guthridge, Cristina Arriens, Diane Kamen, Mariko Ishimori, Daniel J. Wallace, Christopher Striebich, Sonali Narain, Benjamin F. Chong, Fan He, Eric W. Schaefer, Vernon M. Chinchilli, David R. Karp   +14 more
wiley   +1 more source

Investigating the Association Between Paranoia and Sleep Disturbances

, 2020
Christina Savage
openalex   +1 more source

Atypical Visually Guided Precision Grip Control in Middle‐Aged and Older Autistic Adults

Autism Research, EarlyView.
ABSTRACT Sensorimotor impairments are well documented in autism spectrum disorder (ASD). However, little is known about how these difficulties present in middle‐aged and older autistic adults or how they relate to demographic factors and autistic traits.
Zheng Wang, Hang Qu, Danielle Christensen, Hanna M. Gemmell, Ellen M. Parks, Kyla E. Wetherington, Ann‐Marie Orlando, Regilda A. Romero, Bikram Karmakar, David E. Vaillancourt   +9 more
wiley   +1 more source

Hypnotic doses of fazamorexant induced less impairment on balance and cognition than zolpidem in healthy younger and elderly individualse

British Journal of Clinical Pharmacology, EarlyView.
Aims Fazamorexant is a dual orexin receptor antagonist being developed for the treatment of insomnia. This study aims to determine the dose‐exposure‐response relationship of single‐dose fazamorexant vs. zolpidem in young adult and elderly healthy Chinese volunteers. Methods This single‐centre, randomized, double‐blind, double‐dummy, placebo‐ and active‐
Chen Xia, Huang Xingxing, Jin Lu, Wang Ruwei   +3 more
wiley   +1 more source

Relationship Between Sleep Disturbances and In Vitro Fertilization Outcomes in Infertile Women: A Systematic Review and Meta‐Analysis

Farangis Habibi, Roya Nikbakht, Shayesteh Jahanfar, Mohammad Reza Hafezi Ahmadi, Maryam Eslami, Marzieh Azizi, Zohreh Shahhosseini   +6 more
openalex   +1 more source

Examining the association between Apolipoprotein E (APOE) and self-reported sleep disturbances in non-demented older adults

, 2015
Angeliki Tsapanou, Nikolaos Scarmeas, Yian Gu, Jennifer J. Manly, Nicole Schupf, Yaakov Stern, Sandra Barral   +6 more
openalex   +1 more source