Results 141 to 150 of about 994,573 (284)

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

Trial Readiness: Understanding the Natural History of Rare Diseases. [PDF]

J Inherit Metab Dis
Opladen T, Mütze U, Gleich F, Garbade SF, Hübschmann OK, Zielonka M, Kölker S.   +6 more
europepmc   +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

Prevalence, predictors, and natural history of hypophosphatemia following iron infusion. [PDF]

JBMR Plus
Dawson C, Pak LK, Paul E, Szwarcbard N, Hackman K.   +4 more
europepmc   +1 more source

Starting to Understand the Natural History of Sickle Cell Disease in African Countries

, 2022
David C. Rees
openalex   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Natural history of SPP1 signaling in NF1 tumors. [PDF]

NPJ Precis Oncol
Njoya K, Zayed H, Sun L, Alson D, Aina O, Khan S, Veneklasen X, Lytle N, Chaluvally-Raghavan P, Sun D.   +9 more
europepmc   +1 more source

Tōtara: a natural and cultural history [PDF]

, 2017
David A. Norton
openalex   +1 more source

The standard natural history.

, 1884
J. S. Kingsley, Friedrich von Hellwald, Elliott Coues   +2 more
openaire   +2 more sources

Increased Blood Levels of NfL, GFAP, and Placental Growth Factor After Radiotherapy to the Brain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this study, we analyzed biomarkers of neuronal, glial, and vascular injury in longitudinal paired samples of blood and cerebrospinal fluid after prophylactic cranial irradiation in patients with small cell lung cancer. Neurofilament light chain protein (NfL) and glial fibrillary acidic protein (GFAP) increased in serum and cerebrospinal ...
Erik Fernström, Thomas Björk‐Eriksson, Pontus Erickson, Jan Nyman, Henrik Zetterberg, Marie Kalm   +5 more
wiley   +1 more source