Results 61 to 70 of about 98,573 (277)

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

Establishment and Characterization of NCC-MFS5-C1: A Novel Patient-Derived Cell Line of Myxofibrosarcoma

Cells, 2022
Myxofibrosarcoma (MFS) is a highly aggressive malignancy with complex karyotypes and a postoperative recurrence tendency, owing to its strong invasiveness.
Ryuto Tsuchiya, Yuki Yoshimatsu, Rei Noguchi, Yooksil Sin, Takuya Ono, Taro Akiyama, Jun Sugaya, Eisuke Kobayashi, Naoki Kojima, Akihiko Yoshida, Seiji Ohtori, Akira Kawai, Tadashi Kondo   +12 more
doaj   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Sex- and age-dependent neurovascular abnormalities linked to neuroinflammation lead to exacerbated post-ischemic brain injury in Marfan syndrome mice

Redox Biology
Fibrillin 1 gene (Fbn1) mutations cause Marfan syndrome (MFS), triggering life-threatening aortic complications and multi-organ effects. MFS is increasingly linked to neurovascular complications, amplified by aortic surgery risks.
Gemma Manich, Belén Pérez, Clara Penas, Ana Paula Dantas, Joana Coutinho, Paula Sánchez-Bernadó, Julián García-Aranda, Juan Fraile-Ramos, Núria Benseny-Cases, Beatriz Martín-Mur, Anna Esteve-Codina, Isaac Rodríguez-Rovira, Lydia Giménez-Llort, Gustavo Egea, Francesc Jiménez-Altayó   +14 more
doaj   +1 more source

Magnetic Field Response and Chiral Symmetry of Time Reversal Invariant Topological Superconductors

, 2013
We study the magnetic field response of the Majorana Kramers pairs of a one-dimensional time-reversal invariant (TRI) superconductors (class DIII) with or without a coexisting chirality symmetry.
Dumitrescu, Eugene, Sau, Jay D., Tewari, Sumanta   +2 more
core   +1 more source

Phenotypic characterization of human prostatic stromal cells in primary cultures derived from human tissue samples [PDF]

, 2013
Emerging evidence has shown that the tumor microenvironment plays a crucial role in prostate cancer (PCa) development and progression. However, the mechanism(s) through which stromal cells regulate epithelial cells and the differences among prostatic ...
Clemente, Luigi Di, Festuccia, Claudio, Gravina, Giovanni Luca, Mancini, Andrea, Marampon, Francesco, Pasquale, Boris Di, Ranieri, Guido, Ricevuto, Enrico   +7 more
core   +1 more source

Marfan's Syndrome (MFS) [PDF]

Journal of Diagnostic Medical Sonography, 2009
Sonographic screening of patients with Marfan syndrome (MFS) with echocardiograms and abdominal aortic sonography has become the standard of care to monitor aneurysm and/or dissection development. These anomalies are the leading cause of morbidity and mortality related to this syndrome.
Ray Pedrick, Pamela Robichaud, John Benson   +2 more
openaire   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Symmetry-Protected Majorana Fermions in Topological Crystalline Superconductors: Theory and Application to Sr2RuO4

, 2013
Crystal point group symmetry is shown to protect Majorana fermions (MFs) in spinfull superconductors (SCs). We elucidate the condition necessary to obtain MFs protected by the point group symmetry.
Sato, Masatoshi, Tanaka, Yukio, Ueno, Yuji, Yamakage, Ai   +3 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source