Results 201 to 210 of about 8,404 (278)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Boron concentration drives boron substructure and properties derivation in manganese borides. [PDF]

iScience
Ma S, Pang Y, Bao K, Lian M, Wu S, Zhao C, Xu C, Tao Q, Zhao X, Zhu P, Cui T.   +10 more
europepmc   +1 more source

Vibration analysis by the substructure synthesis method. 8th report. Experimental modal synthesis method in free-free boundary conditions.

TRANSACTIONS OF THE JAPAN SOCIETY OF MECHANICAL ENGINEERS Series C, 1989
Sok-chu, PARK, OKUMA, Masaaki, NAGAMATSU, Akio   +2 more
openaire   +2 more sources

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

A unified framework combining linear and 3D molecular features for robust drug-protein interaction prediction. [PDF]

Cell Rep Methods
Sun C, Qin Z, Li M, Li Y, Tang R, Chen S, Wang Y, Liu Y, Wei J, Liu J.   +9 more
europepmc   +1 more source

Analysis of Vibration by Substructure Synthesis Method : 1st Report, Basic Approach

TRANSACTIONS OF THE JAPAN SOCIETY OF MECHANICAL ENGINEERS Series C, 1983
Akio NAGAMATSU, Akihiro NAKAO, Toshitaka IWAMOTO, Masaru NAGAIKE   +3 more
openaire   +2 more sources

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Synthetic Study of Kosinostatin Aglycon: Synthesis of the ABCDEFG Ring Skeleton. [PDF]

J Org Chem
Shimizu Y, Takahashi S, Iwata T, Shimooka H, Okauchi T, Kitamura M.   +5 more
europepmc   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

A Multi-input Deep Learning Architecture for STAT3 Inhibitor Prediction. [PDF]

ACS Omega
Liang K, Qin W, Zhang Y.
europepmc   +1 more source