Results 111 to 120 of about 229,968 (250)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Editorial: Autonomic dysfunction in multiple system atrophy

Frontiers in Neurology, 2022
Tatsuya Yamamoto, Tatsuya Yamamoto, Maria Teresa Pellecchia, Ryuji Sakakibara   +3 more
doaj   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch, Hannah Schwartz, Kimberly H. Markowitz, Abhishek Jaywant, Christopher D. Hildenbrand, Jai Perumal, Ulrike W. Kaunzner, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Social and Structural Forces Shaping Reproductive Decision‐Making in Hispanic Women with Systemic Lupus Erythematosus: A Qualitative Study

Arthritis Care &Research, Accepted Article.
Objective Systemic lupus erythematosus (SLE) disproportionately affects women of reproductive age, making pregnancy timing and contraception use central to care. Although clinical counseling is vital to reproductive planning, less is known about the sociocultural and structural influences shaping reproductive decision‐making among Hispanic women with ...
Leanna Wise, Alexa Montes de Oca, Martha Delgado, Andrew Ramirez, Mellissa Withers, Jennifer Tsui, Michael H. Weisman   +6 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Entropy‐Driven Design of Low‐Melting‐Point Alloys via Compositionally Complex Strategy

Advanced Engineering Materials, EarlyView.
Conventional low‐melting‐point alloys (LMPAs) are limited by a narrow compositional space and inherent property trade‐offs. This review presents an entropy‐driven design strategy that overcomes these limitations, ushering in a new class of low‐melting‐point compositionally complex alloys (LMCCAs).
Yinghui Shang, Jianxiang Zhao, Zhaoqi Chen, Hao Gong, Yinsen Yan, Junlei Tao, Yong Yang   +6 more
wiley   +1 more source

Mitigating Creep Anisotropy and Enhancing Performance in Additively Manufactured Ni‐Based Superalloys: A Review

Advanced Engineering Materials, EarlyView.
Additive manufacturing introduces pronounced microstructural and crystallographic anisotropy in Ni‐based superalloys, resulting in orientation‐dependent creep deformation and damage. This review identifies the key microstructural origins of creep anisotropy, examines their influence on dominant deformation mechanisms, and highlights processing ...
Chandan Kumar, Shobhit Pratap Singh, Gaurav Mohanty, Praveen Kumar   +3 more
wiley   +1 more source

Edible Cuttlefish Ink: Complex Chemistry, Structure, and Electrical Response

Advanced Engineering Materials, EarlyView.
An integrated approach of chemistry‐structure‐electrical properties is used to assess the potential of edible cuttlefish ink as a bio‐based conductive ink for printable electronics. Chromatography and Neutron Activation Analysis reveal a fascinating molecular and elemental diversity.
Camille Bour‐Cardinal, Darren Hall, Teresa Cecchi, Sara Offidani, Philippe Plamondon, Clara Santato   +5 more
wiley   +1 more source