Results 81 to 90 of about 395,235 (313)
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
Qing-qing Shan, Yangke Li Department of Respiration, Chengdu Integrated TCM & Western Medicine Hospital, Chengdu, 610095, People’s Republic of ChinaCorrespondence: Qing-qing Shan, Department of Respiration, Chengdu Integrated TCM & ...
Shan QQ, Li Y
doaj
Effects of bronchial provocation test and bronchial dilation test for the diagnosis of lung diseases
Aim Present study was performed to explore the effects of bronchial provocation test (BPT) and bronchial dilation test (BDT) for the diagnosis of lung diseases.Methods BPT and BDT results were respectively detected by methacholine and albuterol in ...
Mingxia Feng, Xuemei Yang, Yong He
doaj +1 more source
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano+15 more
wiley +1 more source
The respiration of some planktonic copepods [PDF]
J. E. G. Raymont, D. T. Gauld
openalex +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source
The Theory of Respiration [PDF]
I ASK you to eonsider with me a topie whieh is of fundamental interest; to physiB ologistsX whether they eoneern themselveg priirlarily with animals or with plants. I take it t;he basal identity of the living matZ ter in all organisms and of its metabolism needs neither demonstration nor emphasis at my hands.
openaire +4 more sources
ABSTRACT Objective To distinguish lateralized motor‐ and sensory‐tract damage after acute spinal cord injury (SCI) and explore its predictive power for motor and sensory recovery. Methods Thirty‐five SCI patients (two female) from a multi‐center data set (placebo‐arm of the Nogo‐A‐Inhibition in SCI trial) underwent routine T2‐weighted sagittal MRI ...
Lynn Farner+7 more
wiley +1 more source
Liver respiration in normal irradiated and synkavit-treated rats [PDF]
H. K. Hanel, G. Hjort, P. R. Purser
openalex +1 more source