Results 231 to 240 of about 11,556,505 (305)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

Immune responses in the microenvironment after spinal-cord injury: A bibliometric study from 2005 to 2024. [PDF]

open access: yesMedicine (Baltimore)
Zhou Y   +7 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang   +10 more
wiley   +1 more source

Detection of Epicardial Late Potentials by Endocardial Wide-Bipolar Mapping in a Case of Cardiac Sarcoidosis. [PDF]

open access: yesJACC Case Rep
Kobayashi N   +6 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

A Scoping Review on Artificial Intelligence–Supported Interventions for Nonpharmacologic Management of Chronic Rheumatic Diseases

open access: yesArthritis Care &Research, EarlyView.
This review summarizes artificial intelligence (AI)‐supported nonpharmacological interventions for adults with chronic rheumatic diseases, detailing their components, purpose, and current evidence base. We searched Embase, PubMed, Cochrane, and Scopus databases for studies describing AI‐supported interventions for adults with chronic rheumatic diseases.
Nirali Shah   +5 more
wiley   +1 more source

Identifying High‐Impact Solutions to Address Racial and Ethnic Health Disparities in Lupus: A Consensus‐Based Approach

open access: yesArthritis Care &Research, EarlyView.
Objective We conducted formative research aimed at identifying solutions that address inequitable health outcomes in lupus due to adverse social determinants of health (SDoH). Methods We conducted a search for keywords, which provided insights into potential solutions and initiatives underway. An advisory panel of lupus experts iteratively reviewed the
Joy Buie   +11 more
wiley   +1 more source

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