Results 71 to 80 of about 117,949 (253)

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity

Molecular Therapy: Methods & Clinical Development
Surfeit locus protein 1 (SURF1)-related Leigh syndrome is an early-onset neurodegenerative disorder characterized by a reduction in complex IV activity that disrupts mitochondrial function.
Qinglan Ling, Matthew Rioux, Harrison Higgs, Yuhui Hu, Scarlett E. Dwyer, Steven J. Gray   +5 more
doaj   +1 more source

Clonal expansion within pneumococcal serotype 6C after use of seven-valent vaccine [PDF]

, 2013
Streptococcus pneumoniae causes invasive infections, primarily at the extremes of life. A seven-valent conjugate vaccine (PCV7) is used to protect against invasive pneumococcal disease in children.
Chan, Jacqueline, Clarke, Stuart C, Constantinidou, Chrystala, Faust, Saul N, Gladstone, Rebecca A, Jefferies, Johanna M C, Loman, Nicholas, Loman, Nicholas J, O'Connor, Leigh, Pallen, Mark J, Tocheva, Anna S   +10 more
core   +2 more sources

NEUROCHEMICAL CHANGES IN LEIGH'S DISEASE

Journal of Nutritional Science and Vitaminology, 1976
A series of children with Leigh's disease had normal hepatic pyruvate carboxylase activity, increased cerebral thiamine diphosphate, and decreased cerebral thiamine triphosphate. These thiamine esters were normal in liver. The author suggests that the histologic changes of Leigh's disease, as well as the similar changes of Wernicke's disease, could be ...
openaire   +3 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4−/− Mice

Molecular Therapy: Methods & Clinical Development, 2020
Leigh syndrome, or infantile necrotizing subacute encephalopathy (OMIM #256000), is one of the most common manifestations of mitochondrial dysfunction, due to mutations in more than 75 genes, with mutations in respiratory complex I subunits being the ...
Pedro Silva-Pinheiro, Raffaele Cerutti, Marta Luna-Sanchez, Massimo Zeviani, Carlo Viscomi   +4 more
doaj   +1 more source

Flap Anatomies and Victorian Veils: Penetrating the Female Reproductive Interior

Gender &History, EarlyView.
ABSTRACT This article examines the reappearance in the early nineteenth century of anatomical flapbooks in the context of obstetrical education in Britain, America and France. It asks why liftable paper flaps were reintroduced at this time after their disappearance from medical atlases in the eighteenth century.
Margaret Carlyle, Marcia D. Nichols
wiley   +1 more source

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources

Hypocapnic hypothesis of Leigh disease

Medical Hypotheses, 2017
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis.
openaire   +2 more sources

READING HOUSING AS AN URBAN INFRASTRUCTURE PATTERNING THE ‘WHORE STIGMA’

International Journal of Urban and Regional Research, EarlyView.
Abstract In this article, I conceptualize housing as an urban infrastructure enabling the reproduction, exploitation, circulation and emplacement of the ‘whore stigma’. To this end, I engage with infrastructural scholarship, particularly the emerging field of infrastructural housing studies, and situate it in dialogue with critical perspectives on ...
Daniela Morpurgo
wiley   +1 more source