Results 51 to 60 of about 2,451 (126)
Frontiers in Cell and Developmental Biology, 2021 Objective: The objective of this study is to analyze the genotype–phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and ATP1A3 c.2452 G > A
Wenjia Wang +15 more
doaj +1 more source
Genetic testing in paediatric neurological disorders
Developmental Medicine &Child Neurology, EarlyView.In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey +9 more
wiley +1 more source
The Application of Clinical Genetics, 2020 Alessandro Capuano,1 Giacomo Garone,1,2 Giuseppe Tiralongo,1 Federica Graziola1 1Movement Disorders Clinic, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy; 2University Hospital ...
Capuano A +3 more
doaj
The FEBS Journal, EarlyView.Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi +12 more
wiley +1 more source
Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review
Rambam Maimonides Medical JournalAlternating hemiplegia of childhood (AHC) is a complex neurodevelopmental disorder characterized by paroxysmal and transient events of unilateral or bilateral paresis, usually occurring before 18 months of age.
Jamir Pitton Rissardo +4 more
doaj +1 more source
Cancer Cell International, 2020 Background Ovarian serous cystadenocarcinoma (OSC) is the most common and lethal gynecological cancer in women worldwide; however, biomarkers to diagnose and predict prognosis of OSC remain limited.
Wei Huang +6 more
doaj +1 more source
Movement Disorders, Volume 41, Issue 9, Page 2455-2466, September 2026.Abstract Background Relatively little is known about voice and speech abnormalities and their changes after deep brain stimulation (DBS) in patients with dystonia. Objective The aim was to determine the incidence of speech abnormalities, including laryngeal dystonia, among patients with dystonia receiving DBS and to characterize their response to this ...
Ian O. Bledsoe +7 more
wiley +1 more source
Haseki Tıp BülteniAim: Increased cerebrospinal fluid (CSF) oligoclonal band prevalence, elevated cytokine levels, glial antibodies, and positive response to steroids have been described in idiopathic intracranial hypertension (IIH), suggesting autoimmune etiology in this ...
Cem Ismail Kucukali +3 more
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Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source