Results 181 to 190 of about 1,609,120 (298)

A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]

Orphanet J Rare Dis
Vaishnaw MS, Richesson R.
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases. [PDF]

Biomolecules
Li H, Loewinger AS, Roshandel D, Fang Y, You J, Daniell M, Yang GN.   +6 more
europepmc   +1 more source

Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke, Petra Steinacker, Steffen Halbgebauer, Patrick Oeckl, Geert Mayer, Markus Otto   +5 more
wiley   +1 more source

Policy evaluation frameworks for rare diseases: a scoping review. [PDF]

BMC Health Serv Res
Çakmak Barsbay M, Aydamak MY.
europepmc   +1 more source

Nurses' Knowledge of Rare Diseases: A Systematic Review. [PDF]

Nurs Rep
Muñóz Sánchez I, Martínez-Linares JM, Rodríguez-Blanque R, Cortés-Martín J, Reinoso-Cobo A, Lechuga Carrasco B, Sánchez-García JC.   +6 more
europepmc   +1 more source

Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China. [PDF]

Intractable Rare Dis Res
Hu S.
europepmc   +1 more source

A Case of Cerebral Cortical Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
Sixiao Liu, Kunqian Ji, Wei Wu, Wei Li
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases. [PDF]

Mol Genet Genomic Med
Dutta R, Duong C, Kimonis V, Xiao C.
europepmc   +1 more source