Results 71 to 80 of about 1,903,302 (303)

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

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Determinants of diagnostic prototypicality judgments of the personality disorders [PDF]

, 1990
The recent advent of the third edition of the Diagnostic and Statistical Manual of Mental Disorders represented a major shift from a monothetic to a polythetic system for the categorization of psychopathology.
Herbert, Diana Lee, NC DOCKS at The University of North Carolina at Greensboro   +1 more
core  

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Psychopathic personality configurations in early childhood : a response to Dvoskin et al. (2022)

, 2022
Dvoskin et al. (2022) offered a cautionary comment on an article published in the Journal of Personality Disorders (Lopez-Romero et al., 2021). This comment was focused on the scientific and policy grounds of our study, and cautioned against the use of ...
Lopez-Romero, Laura, Salekin, Randall T.,, Andershed, Henrik,, Colins, Olivier, López-Romero, Laura,, Romero, Estrella,, Salekin, Randall T., Romero, Estrella, Andershed, Henrik, Colins, Olivier F.,   +9 more
core   +1 more source

Borderline Personality Disorder [PDF]

Canadian Medical Association Journal, 2005
Abstract Borderline personality disorder (BPD) describes a clinical syndrome commonly seen in practice (Zimmerman, Rothschild, & Chelminski, 2005). The most characteristic symptom is chronic suicidality (Paris, 2002), with recurrent overdoses and selfmutilation.
openaire   +2 more sources

Vascular Disease, Non‐Steroidal Anti‐Inflammatory Drugs and Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives A history of vascular disease has been shown to be associated with an increased risk of Parkinson's disease, but this may be due to reverse causation. In addition, non‐steroidal anti‐inflammatory drugs are thought to reduce Parkinson's disease risk, but evidence is inconsistent and confounding by prior vascular disease is possible ...
Clare Wotton, Carol Hermon, Sarah Floud, Gillian Reeves, Isobel Barnes   +4 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

The Future of Personalized Care: Scientific, Measurement, and Practical Advancements in Personality and Brain Disorders

, 2019
Background: Person-centered care sciences are experiencing rapid progress. Personalization in care services is becoming the norm, and implementation from scientific knowledge is increasingly acknowledged and mandated.
Petri J. Kajonius, Kajonius, Petri,, Kajonius, Petri J.,   +2 more
core   +1 more source