Results 161 to 170 of about 15,700 (254)

Mitotic chromatin compaction tethers extrachromosomal DNA to chromosomes and prevents their mis-segregation into micronuclei. [PDF]

J Biol Chem
Yang LM.
europepmc   +1 more source

Disruption of macrophage cell volume drives inflammatory responses and type I interferon signaling. [PDF]

J Cell Biol
Cook JR, Gleeson TA, Gago S, Allan SM, Couper KN, Lawrence CB, Brough D, Green JP.   +7 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

A Quality Improvement Project on Optimising Intravenous Maintenance Fluid Prescribing in Surgical Patients. [PDF]

Cureus
Tan JX, Tan HM, Sasapu K.
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Non-uniform impact of extracellular osmotic variations at subcellular level. [PDF]

Cell Death Discov
Singh P, Mittal A.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Cell swelling and upright mounting-based imaging for high-resolution visualization of intracellular trafficking across the BBB using conventional confocal microscopy. [PDF]

Drug Deliv
Oh DH, Kang JH, Lee OH, Ko YT.
europepmc   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

Movement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer, Gaëtan Poulen, Marie‐Céline François‐Heude, Eline Chauvet‐Piat, Bérénice Lecardonnel, Emmanuel Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Julien Baleine, Chrystelle Sola, Vivien Szabo, Bénédicte Delye, Jana Haberlova, Mohamed Osman Eltahir Babiker, Mohammed Al Muqbil, Stéphanie Sanchez, Souad Touati, Nicolas Leboucq, Virginie Kouyoumdjian, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie   +27 more
wiley   +1 more source