Results 281 to 290 of about 439,003 (336)

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue. [PDF]

EMBO Mol Med
Schomakers BV, Passadouro AS, Trętowicz MM, Simpson PJ, Jaspers YRJ, van Weeghel M, Hu IM, Lamboo CME, Cloutier D, Byrne BJ, van Klinken JB, Janssen PML, Piersma SR, Jimenez CR, Vaz FM, Salomons GS, van der Velden J, Houtkooper RH, Mosegaard S.   +18 more
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Plasma Extracellular Vesicles as Liquid Biopsies for Glioblastoma: Biomarkers, Subpopulation Enrichment, and Clinical Translation. [PDF]

Int J Mol Sci
Aibaidula A, Gharibi Loron A, Bouchal SM, Bauman MMJ, You HB, Lucien F, Parney IF.   +6 more
europepmc   +1 more source

Supplementary Material for: Body-wide expression profiles of commonly assessed cardiac biomarkers in a large cohort of human tissue donors

figshare admin karger (2628495), O'Connell G.C. (21678677), Smothers C.G. (21678680), Wang J. (3112815), Armentrout B.L. (21678683)   +4 more
openalex   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Multimodal Imaging of the Corneal Endothelial Transition Zone Reveals Progenitor Cell Population. [PDF]

Cells
Rathi S, Hülse P, Staehlke S, Walckling M, Anwar M, Trosan P, Bohn S, Stachs O, Peh GSL, Yam GH, Mehta JS, Hofmann N, Börgel M, Fuchsluger TA.   +13 more
europepmc   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

Clinical and epidemiological factors affecting donor corneal endothelial cell density. [PDF]

BMJ Open Ophthalmol
Amir E, Lichter DD, Corem N, Solomon A.
europepmc   +1 more source

Predictive molecular pathology after prolonged fixation: A study on tissue from anatomical body donors

Anja Böckers, Leon Schurr, Michael P. Schön, Tatjana Scholl, Tobias M. Böckers, Konrad Steinestel, Annette Arndt   +6 more
openalex   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source