Results 101 to 110 of about 4,949 (187)
Digital Outcomes of Upper Limb Ataxia Capture Meaningful Longitudinal Change and Treatment Response
Movement Disorders, Volume 40, Issue 11, Page 2486-2496, November 2025.Abstract Background Digital‐motor outcomes promise better responsiveness than clinician‐reported outcomes in ataxia trials. However, their patient meaningfulness and sensitivity to change remain to be demonstrated, particularly in the upper limb domain.
Dominik Hermle +7 more
wiley +1 more source
Cancer Medicine, Volume 14, Issue 19, October 2025.ABSTRACT Background RT4 bladder cancer cell line, derived from a nonmuscle‐invasive low‐grade subtype, is one of the few neoplastic cell lineages that maintain high expression of the candidate tumor suppressor ALDH1L1. Here, we investigated how differential ALDH1L1 expression affects cellular characteristics and tumorigenicity of RT4 cells as well as ...
Halle M. Meyers +9 more
wiley +1 more source
International Journal of Reproductive BioMedicineBackground: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a
Neda Farajnezhad +3 more
doaj +1 more source
Wernicke Korsakoff Encephalopathy [PDF]
, 2016 Consideration for Wernicke encephalopathy should be given to patients with any evidence of long-term alco- hol abuse or malnutrition and any of the following: acute confusion, decreased conscious level, ataxia, ophthalmo- plegia, memory disturbance ...
Caruso, Paola +2 more
core
An Evolution Process For Service-Oriented Systems [PDF]
, 2012 Evolution of service-oriented systems is quite a new research area, which becomesmore and more important as engineering challenges move from enablingservice-orientation onto the maintenance and evolution of already developedservice-oriented systems ...
Andrzej Zalewski +2 more
core +2 more sources
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Cerebral folate deficiency (CFD) is characterized by reduced levels of folate, particularly 5‐methyltetrahydrofolate (5‐MTHF), in the cerebrospinal fluid (CSF). This case report describes a 10‐year‐old girl diagnosed with CFD due to a pathogenic mutation in the FOLR1 gene, which impairs folate transport across the blood–brain barrier.
Farzad Ahmadabadi +4 more
wiley +1 more source
3D structure prediction of replication factor C subunits (RFC) and their interactome in Arabidopsis thaliana [PDF]
Network Biology, 2013 DNA stress can causes potentially spontaneous genome damage during DNA replication process. Proteins involved in this process are DNA-dependent ATPases, required for replication and repair.
Mohamed Ragab Abdel Gawwad +2 more
doaj
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome
Molecular Genetics & Genomic Medicine, 2019 Background Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) associated cancer, where a causative variant was ...
Alexandre Xavier +7 more
doaj +1 more source
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample [PDF]
, 2018 X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far.
Aubourg, Patrick +6 more
core
Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only
Brazilian Journal of Medical and Biological Research, 2008 In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa.
A.R. Vieira +4 more
doaj