ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Dose optimization for CT scans of the temporal bone using spectral shaping tin filter. [PDF]
von Hessling A +5 more
europepmc +1 more source
Phytoremediation potential and iron fortification of sorghum (Sorghum bicolor L. Moench) in rusty soil from sand filtration of groundwater [PDF]
Charles Godspower Ologidi +10 more
openalex +1 more source
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Procedural Challenges in Soil Sample Preparation for Pharmaceuticals Analysis. [PDF]
Fiszka Borzyszkowska A +2 more
europepmc +1 more source
Functional Connectivity Linked to Cognitive Recovery After Minor Stroke
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri +7 more
wiley +1 more source
Enhanced surgical outcomes in refractory glaucoma: a retrospective study of using adjustable sutures with Ex-PRESS filtration device. [PDF]
Ji Z, Wei D, Yu N, Yang X.
europepmc +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
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 +8 more
wiley +1 more source
Contribution of the glomerular filtration rate slope to the kidney hierarchical composite endpoint
Dustin J. Little +5 more
openalex +1 more source
Ceramic Membarne Filtration for Waste Water Treatment in the Non-CFC Cleaning Process.
MASAHIRO WAKIDA
openalex +2 more sources

