Results 211 to 220 of about 487,231 (316)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Spinal Cord Ischaemia [PDF]

BMJ, 1963
openaire   +2 more sources

Schwannosis with mature collagen in the spinal cord of a calf. [PDF]

J Vet Diagn Invest
Iwase F, Watanabe KI, Takahashi E, Miller AD, Kobayashi Y, Yamada M.   +5 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Spinal cord involvement and cardiovascular autonomic dysfunction in Parkinson's disease. [PDF]

Sci Rep
Chougar L, Lejeune FX, Cohen-Adad J, Landelle C, Guay-Paquet M, Newton J, Valosek J, Biondetti E, Jovanovic C, Wennberg K, Dagher A, Doyon J, Pyatigorskaya N, Sambin S, Mangone G, Corvol JC, Arnulf I, Vidailhet M, Lehéricy S.   +18 more
europepmc   +1 more source

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn, Kate D'Cruz, Mark Brown, Jacinta Douglas, Dianne Winkler   +4 more
wiley   +1 more source

Elongation of spinal cord reactive astrocytes via LRP1/TRK signaling. [PDF]

Signal Transduct Target Ther
Rodriguez-Jimenez FJ, Selles F, Jendelova P, Erceg S.   +3 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Light‐Activated Isolation of High‐Quality Mitochondria for Therapeutic Transplantation

Angewandte Chemie, EarlyView.
The Light‐Activated Mitochondrial Isolation (LAMI) platform enables the selective and non‐destructive isolation of high‐purity, metabolically active mitochondria. By integrating modular, ligand‐programmable magnetic probes with photo‐cleavable release, LAMI overcomes long‐standing limitations of conventional isolation methods and provides a robust ...
Hui Liu, Yuxin Jiao, Ting Zhang, Haiwei Wang, Yufei Xue, Jiayu Ding, Yang Ding, Meiling Wang, Weisen Zhang, Hua Bai, Bo Peng, Nicolas H. Voelcker, Lin Li   +12 more
wiley   +2 more sources

Axial Identity of Spinal Cord Neural Progenitor Cell Grafts Is Dispensable for Regeneration and Functional Recovery After Spinal Cord Injury. [PDF]

Cells
Smith A, Dietz V, Hoppe JD, Imrie G, Lee G, Leonards A, Jagrit V, Evans A, Gillespie T, Gottschall B, Inskeep B, Amar Kumar P, Friedrich L, Blackmore MG, Farhy-Tselnicker I, Dulin JN.   +15 more
europepmc   +1 more source