Results 91 to 100 of about 40,780 (300)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Skin conductance response to the faces.

, 2013
Skin conductance changes while participants viewed faces. Left: Loved vs. neutral vs. unpleasant faces. Right: Romantic partner (boyfriend/girlfriend) vs. same-sex parent (father/mot her) faces.
Pedro Guerra (315035), Alicia Sánchez-Adam (315038), Lourdes Anllo-Vento (315039), Isabel Ramírez (315040), Jaime Vila (288374)   +4 more
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Skin conductance simulator

, 2016
Merilniki prevodnosti človeške kože so dandanes v uporabi na najrazličnejših področjih – od znanosti, zdravstva do zabavne industrije. Kljub njihovi vsestranski uporabi, pa se njihova merilna točnost le redko preverja.
KENK, MIHA
core  

Brain region negatively correlated with skin conductance.

, 2015
The ventromedial prefrontal cortex (vmPFC, x = 2, y = 25, z = -14) showed significant negative correlation with skin conductance across 26 subjects (peak voxel p < 0.001 and cluster level p < 0.05, FWE corrected).
Sien Hu (447572), Chiang-shan R. Li (5128649), Herta H. Chao (184094), Jianping Hu (287208), Sheng Zhang (111330), Po-Lun Wu (755531)   +5 more
core   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Problematic internet users' skin conductance and anxiety increase after exposure to the internet [PDF]

, 2017
Introduction: To examine the impact of cessation of an internet session on skin conductance responses and anxiety of higher and lower problem internet users, in order to explore possible physiological withdrawal effects.
R. Truzoli, L. A. Osborne, A. Roaro, F. Re, Michela Romano, Phil Reed, Alessandra Roaro, Federica Re, Roberto Truzoli, Lisa A. Osborne, M. Romano, P. Reed   +11 more
core   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

Habituation of parasympathetic-mediated heart rate responses to recurring acoustic startle

Frontiers in Psychology, 2014
Startle habituation is a type of implicit and automatic emotion regulation. Diminished startle habituation is linked to several psychiatric or neurological disorders.
Kuan-Hua eChen, Kuan-Hua eChen, Nazan eAksan, Steven W Anderson, Steven W Anderson, Amanda eGrafft, Amanda eGrafft, Mark W. Chapleau, Mark W. Chapleau, Mark W. Chapleau, Mark W. Chapleau   +10 more
doaj   +1 more source