Results 221 to 230 of about 2,773,301 (295)

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

AKAP1 Protects Retinal Ganglion Cells and Preserves Vision by Improving Mitochondrial and Synaptic Health in Glaucomatous Neurodegeneration. [PDF]

Adv Sci (Weinh)
Bastola T, Kim KY, Shen Z, Perkins GA, Poudel M, Lim Y, Choi H, Choi SH, Ellisman MH, Weinreb RN, Ju WK.   +10 more
europepmc   +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

International Research Collaboration Supported by the U.S. National Institutes of Health: An Analysis of Coauthor Country Affiliations - 2014-23. [PDF]

Ann Glob Health
Kilmarx PH, Kyere S.
europepmc   +1 more source

Cerebrospinal Fluid GAD65‐Antibody Levels Accurately Identify Relevant Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Retrospective cohort study to investigate which factors most reliably distinguish incidental GAD65‐antibodies (iGAD65) from true GAD65‐antibody neurological disease (tGAD65). 167 adults with positive serum and CSF GAD65‐antibodies (> 0.02 nmol/L by radioimmunoassay) were classified as tGAD65 or iGAD65, with diagnostic performance of ...
Max Charles Herman, Maya Marzello, Zoaib Habib Tharwani, Snigdha Kotaru, Yoav D. Piura, Eric Newman, Gregory S. Day, Andrew McKeon, A. Sebastian Lopez‐Chiriboga, Sarosh R. Irani   +9 more
wiley   +1 more source

In-flight cosmic radiation doses along the current alternative routes between Tokyo and Frankfurt. [PDF]

Front Public Health
Yasuda H, Yajima K, Sato T.
europepmc   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

Arthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart, Anne Horne, Angelo Gaffo, Lisa K. Stamp, N. Lawrence Edwards, Nicola Dalbeth   +5 more
wiley   +1 more source

Graph theory-based machine learning for automated fibromyalgia diagnosis using fMRI during an emotional task. [PDF]

PLoS One
Solouki L, Shahsavari S, Sharini H, Hashemian AH, Johann Schmid V, Jafari S, Rouhi S, Mahaki B.   +7 more
europepmc   +1 more source

Understanding the Burden of Orofacial Involvement and Patient Treatment Preferences in Systemic Sclerosis: Results From a Large International Survey

Arthritis Care &Research, EarlyView.
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni, Lee Shapiro, Deana Gibbs, Zsuzsanna H. McMahan, Michael Hughes   +4 more
wiley   +1 more source