Results 181 to 190 of about 415,740 (306)

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene. [PDF]

Neurogenetics
Juścińska E, Gadzalska K, Jakiel P, Gorządek M, Pietrusiński M, Płoszaj T, Skoczylas S, Starosz K, Borowiec M, Pastorczak A, Zmysłowska A.   +10 more
europepmc   +1 more source

\u27The Light-House Keeper\u27 by Henryk Sienkiewicz: An Interpretation [PDF]

, 1994
Ivanov, Petko
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Validation and Psychometric Evaluation of the Polish Language Version of the Sleep Disturbance Scale for Children (SDSC). [PDF]

J Clin Med
Jączak-Goździak M, Bruni O, Żarowski M.   +2 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Accelerating real-world data collection using large language models in rare neoplasms: a bone sarcoma example. [PDF]

ESMO Real World Data Digit Oncol
Teterycz P, Rynkun S, Szostakowski B, Wągrodzki M, Rutkowski P, Rosińska M.   +5 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Perceptions of AI-based tools among polish medical university students. [PDF]

BMC Med Educ
Ratajczak P, Słowik O, Cynar J, Kopciuch D, Paczkowska A, Zaprutko T, Kus K.   +6 more
europepmc   +1 more source

Polish Neurosis and the World Literature

, 2022
openaire   +2 more sources

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source