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
Thermoregulatory responses in elite cross-country skiers during international competitions and training. [PDF]
Schobersberger W +10 more
europepmc +1 more source
The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley +1 more source
Effect of pacing strategy modification on 200 m performance in athletics. [PDF]
Yoshimoto T +5 more
europepmc +1 more source
Etude des variations du chromosome Y dans quatre races bovines italiennes.
de Giovanni, Annamaria, P. Cribiu, E.
openalex +2 more sources
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Development and application of a <i>Puccinia triticina</i> avirulence gene <i>AvrLr15</i>-specific molecular marker. [PDF]
Jin Y +11 more
europepmc +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund +3 more
wiley +1 more source
Tilletia caries and resistance of wheat to this pathogen in Ukraine .
L.T. Babayants +3 more
doaj +1 more source

