Results 131 to 140 of about 351,102 (361)

Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report

Frontiers in Medicine
Hepatolenticular Degeneration (HLD) is a rare condition caused by a genetic copper metabolism disorder and a basal ganglia-dominated degenerative brain disease. Its characteristic clinical features include progressive extrapyramidal symptoms, psychiatric
Zhuang Tao, Jiafeng Zhou, Zhenzhen Jiang, Ya Hu, Shupei Jia, Meixia Wang   +5 more
doaj   +1 more source

The Molecular Pathology of Prion Diseases [PDF]

, 2004
Prion diseases, or transmissible spongiform encephalopathies (TSEs), are a group of invariably fatal neurodegenerative disorders. Uniquely, they may present as sporadic, inherited, or infectious forms, all of which involve conversion of the normal ...
Herms, Jochen, Kretzschmar, Hans A., Vassallo, Neville   +2 more
core  

Gluten encephalopathy with psychiatric onset: case report [PDF]

, 2009
Nicola Poloni, Simone Vender, Emilio Bolla, Paola Bortolaso, Chiara Costantini, Camilla Callegari   +5 more
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Clinical analysis of Wallenberg's syndrome

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the clinical features of Wallenberg syndrome (WS). Methods Clinical manifestations, imaging features, etiology and predisposing factors, treatment and prognosis of 36 WS patients from March 2015 to October 2017 were retrospectively
Jie HU, Rui-qing XU, Xiang-long LÜ, Yun-qin WANG, Ying GAO   +4 more
doaj  

Linking physical stimulation to molecular responses: The role and value of exosomes in mediating the systemic effects of Chinese Tuina

Clinical and Translational Discovery
Chinese Tuina, a fundamental manual therapy technique in traditional Chinese medicine (TCM), treats diseases by applying precisely regulated mechanical forces to the human body.
Lifen Zhan, Ji Zhang, Yiping Chen, Suyu Chen, Xiantao Tai   +4 more
doaj   +1 more source

TSE results complementing the European Union summary report on surveillance for the presence of transmissible spongiform encephalopathies (TSE) - Lithuania

, 2020
State Food And Veterinary Service
openalex   +2 more sources

ASSESSMENT OF THE DYNAMICS OF HEPATIC ENCEPHALOPATHY IN PATIENTS WITH CIRRHOSIS BEFORE AND AFTER IN-HOSPITAL TREATMENT

, 2022
Bekmuradova Makhsuda Salkhidinovna
openalex   +1 more source