Results 191 to 200 of about 1,622,414 (348)

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

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 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

Supplementary Material for: Population Genetics of Rare Variants and Complex Diseases

, 2013
M.C. Maher, Lawrence H. Uricchio, Dara G. Torgerson, Ryan D. Hernandez   +3 more
openalex   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Diagnosis, treatment, and research status of rare diseases related to birth defects

, 2023
Hongjuan Zhao, Chen Du, Guang Yang, Yu Wang   +3 more
openalex   +2 more sources

Improving Trial Design and Analysis for Treatments for Rare Diseases [PDF]

, 2020
Kelley M. Kidwell, Roy Tamura, Thomas Braun, Boxian Wei, Yan-Cheng Chao, Holly Hartman   +5 more
openalex   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

CELL TO CELL COMMUNICATION IN GLIOBLASTOMA PROGRESSION: INTRATUMORAL SYNAPSES?

IBRO Neuroscience Reports, 2023
María Losada-Pérez, Irene García-Ricote, Mamen Hernández García-Moreno, Sergio Casas Tintó   +3 more
doaj   +1 more source

Compounded medicines: tailored solution for rare diseases - the case of Urea Cycle Disorders and Primary Distal Tubular Acidosis

Chahinez NEHAL, Rania AKLI, Ouardia Sofia AIT AISSA, Kenza AIT HAMMOU, Abdelhamid BOUDOUH, Abir Ayadi, Sarah FIALA, Fazia DJENNANE   +7 more
openalex   +1 more source