Results 151 to 160 of about 977,473 (267)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting. [PDF]

Thromb J
Safdari SM, Jozdani S, Mottaghizadeh-Jazi M, Shayanmanesh M, Khanahmad A, Bakhtiyaridovvombaygi M, Rezazadeh A, Tabibian S.   +7 more
europepmc   +1 more source

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 more
wiley   +1 more source

The Molecular Diagnosis of Invasive Fungal Diseases with a Focus on PCR. [PDF]

Diagnostics (Basel)
Brown L, Cruciani M, Morton CO, Alanio A, Barnes RA, Donnelly JP, Hagen F, Gorton R, Lackner M, Loeffler J, Millon L, Rautemaa-Richardson R, White PL.   +12 more
europepmc   +1 more source

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks, Anna Wolska, Diala Ghazal, Dejan Jakimovski, Bianca Weinstock‐Guttman, Alexander Burnham, Niels Bergsland, Michael G. Dwyer, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +10 more
wiley   +1 more source

Brittle Cornea Syndrome: Molecular Diagnosis and Management. [PDF]

Diagnostics (Basel)
Zeppieri M, Gentile M, Acquaviva A, Scollo D, D'Esposito F, Gagliano G, Avitabile A, Gagliano C, Lapenna L.   +8 more
europepmc   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

EBUS-TBNA needle rinse fluid: a superior specimen for the molecular diagnosis of intrathoracic lymph node tuberculosis. [PDF]

Front Cell Infect Microbiol
Niu Y, Li X, Yan JY, Song H, Yao L, Zhang L, Wu M, Tang P, Xu J, Feng Y.   +9 more
europepmc   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source